Results for the protein: P51587

Results for the Protein: P51587

14424438

675

BRCA2

NCBI, UniProt

BRCA2_HUMAN RecName: Full=Breast cancer type 2 susceptibility protein; AltName: Full=Fanconi anemia group D1 protein

Known Diseases associated with this Protein:
BREAST CANCER (BC)
FANCONI ANEMIA COMPLEMENTATION GROUP D1 (FANCD1)

44

113

0

0

157

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Default View: BRCA-2_helical - pfam09169 BRCA-2_OB1 - pfam09103 Tower - pfam09121 BRCA-2_OB3 - pfam09104	Swiss-Prot Protein: P51587 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BRCA-2_OB1	pfam09103	1.5e-69	2670	2800
Tower	pfam09121	5.1e-26	2831	2872
BRCA-2_OB3	pfam09104	3e-95	3052	3190

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005087	Polymorphism	p.ALA75PRO	N/A
Swiss-Prot	VAR_008792	Polymorphism	p.ALA2951THR	N/A
Swiss-Prot	VAR_008785	Polymorphism	p.ALA2466VAL	N/A
Swiss-Prot	VAR_005104	Polymorphism	p.ARG2034CYS	N/A
Swiss-Prot	VAR_032727	Polymorphism	p.ARG2108CYS	N/A
Swiss-Prot	VAR_063911	Polymorphism	p.ARG2502CYS	N/A
Swiss-Prot	VAR_032734	Polymorphism	p.ARG2842CYS	N/A
Swiss-Prot	VAR_056757	Polymorphism	p.ARG2336GLN	N/A
Swiss-Prot	VAR_032713	Polymorphism	p.ARG118HIS	N/A
Swiss-Prot	VAR_032730	Disease	p.ARG2336HIS	Fanconi anemia complementation group D1 (FANCD1)
Swiss-Prot	VAR_008788	Polymorphism	p.ARG2502HIS	N/A
Swiss-Prot	VAR_008790	Polymorphism	p.ARG2787HIS	N/A
Swiss-Prot	VAR_020709	Polymorphism	p.ARG448HIS	N/A
Swiss-Prot	VAR_020733	Polymorphism	p.ARG2488LYS	N/A
Swiss-Prot	VAR_063914	Polymorphism	p.ARG2659LYS	N/A
Swiss-Prot	VAR_008796	Polymorphism	p.ARG3276SER	N/A
Swiss-Prot	VAR_063918	Polymorphism	p.ARG3052TRP	N/A
Swiss-Prot	VAR_056758	Polymorphism	p.ASN2447ASP	N/A
Swiss-Prot	VAR_005098	Polymorphism	p.ASN991ASP	N/A
Swiss-Prot	VAR_008766	Polymorphism	p.ASN108HIS	N/A
Swiss-Prot	VAR_032728	Disease	p.ASN2135HIS	Breast cancer (BC)
Swiss-Prot	VAR_005092	Polymorphism	p.ASN289HIS	N/A
Swiss-Prot	VAR_020743	Disease	p.ASN3124ILE	Breast cancer (BC)
Swiss-Prot	VAR_008771	Polymorphism	p.ASN886ILE	N/A
Swiss-Prot	VAR_018911	Polymorphism	p.ASN987ILE	N/A
Swiss-Prot	VAR_005102	Polymorphism	p.ASN1880LYS	N/A
Swiss-Prot	VAR_005099	Polymorphism	p.ASN1147SER	N/A
Swiss-Prot	VAR_020716	Polymorphism	p.ASN1279SER	N/A
Swiss-Prot	VAR_008780	Polymorphism	p.ASN1805SER	N/A
Swiss-Prot	VAR_020734	Polymorphism	p.ASN2706SER	N/A
Swiss-Prot	VAR_020706	Polymorphism	p.ASN60SER	N/A
Swiss-Prot	VAR_032723	Disease	p.ASN1730TYR	Breast cancer (BC)
Swiss-Prot	VAR_005097	Disease	p.ASP728ALA	Breast cancer (BC)
Swiss-Prot	VAR_008777	Polymorphism	p.ASP1513ASN	N/A
Swiss-Prot	VAR_008781	Polymorphism	p.ASP1902ASN	N/A
Swiss-Prot	VAR_008772	Polymorphism	p.ASP935ASN	N/A
Swiss-Prot	VAR_056756	Polymorphism	p.ASP2238GLU	N/A
Swiss-Prot	VAR_005108	Polymorphism	p.ASP3095GLU	N/A
Swiss-Prot	VAR_063916	Polymorphism	p.ASP2723GLY	N/A
Swiss-Prot	VAR_020735	Polymorphism	p.ASP2723HIS	N/A
Swiss-Prot	VAR_008776	Polymorphism	p.ASP1420TYR	N/A
Swiss-Prot	VAR_008769	Polymorphism	p.ASP707TYR	N/A
Swiss-Prot	VAR_032716	Polymorphism	p.CYS315SER	N/A
Swiss-Prot	VAR_005095	Disease	p.CYS554TRP	Breast cancer (BC)
Swiss-Prot	VAR_008774	Polymorphism	p.CYS1290TYR	N/A
Swiss-Prot	VAR_020719	Disease	p.CYS1580TYR	Breast cancer (BC)
Swiss-Prot	VAR_032731	Disease	p.GLN2456GLU	Breast cancer (BC)
Swiss-Prot	VAR_005107	Disease	p.GLN2421HIS	Breast cancer (BC)
Swiss-Prot	VAR_018916	Polymorphism	p.GLU2856ALA	N/A
Swiss-Prot	VAR_008778	Polymorphism	p.GLU1593ASP	N/A
Swiss-Prot	VAR_008783	Disease	p.GLU2089ASP	Breast cancer (BC)
Swiss-Prot	VAR_020730	Polymorphism	p.GLU2275GLY	N/A
Swiss-Prot	VAR_020710	Polymorphism	p.GLU462GLY	N/A
Swiss-Prot	VAR_020713	Polymorphism	p.GLU1036LYS	N/A
Swiss-Prot	VAR_020722	Disease	p.GLU1901LYS	Breast cancer (BC)
Swiss-Prot	VAR_063915	Polymorphism	p.GLU2663VAL	N/A
Swiss-Prot	VAR_005101	Polymorphism	p.GLY1529ARG	N/A
Swiss-Prot	VAR_020732	Polymorphism	p.GLY2353ARG	N/A
Swiss-Prot	VAR_028167	Disease	p.GLY25ARG	Breast cancer (BC)
Swiss-Prot	VAR_020738	Polymorphism	p.GLY2793ARG	N/A
Swiss-Prot	VAR_020707	Polymorphism	p.GLY405ARG	N/A
Swiss-Prot	VAR_008779	Polymorphism	p.GLY1771ASP	N/A
Swiss-Prot	VAR_063917	Polymorphism	p.GLY2748ASP	N/A
Swiss-Prot	VAR_020742	Polymorphism	p.GLY3076GLU	N/A
Swiss-Prot	VAR_032726	Polymorphism	p.GLY2044VAL	N/A
Swiss-Prot	VAR_005105	Disease	p.GLY2274VAL	Breast cancer (BC)
Swiss-Prot	VAR_061563	Polymorphism	p.HIS2116ARG	N/A
Swiss-Prot	VAR_018914	Polymorphism	p.HIS2440ARG	N/A
Swiss-Prot	VAR_018912	Polymorphism	p.HIS1561ASN	N/A
Swiss-Prot	VAR_008782	Polymorphism	p.HIS2074ASN	N/A
Swiss-Prot	VAR_005106	Disease	p.HIS2415ASN	Breast cancer (BC)
Swiss-Prot	VAR_005094	Polymorphism	p.HIS372ASN	N/A
Swiss-Prot	VAR_056752	Polymorphism	p.ILE982LEU	N/A
Swiss-Prot	VAR_005109	Polymorphism	p.ILE3103MET	N/A
Swiss-Prot	VAR_032719	Disease	p.ILE729MET	Breast cancer (BC)
Swiss-Prot	VAR_063912	Polymorphism	p.ILE2627PHE	N/A
Swiss-Prot	VAR_008791	Polymorphism	p.ILE2944PHE	N/A
Swiss-Prot	VAR_008787	Polymorphism	p.ILE2490THR	N/A
Swiss-Prot	VAR_032718	Disease	p.ILE505THR	Breast cancer (BC)
Swiss-Prot	VAR_020723	Polymorphism	p.ILE1929VAL	N/A
Swiss-Prot	VAR_005112	Polymorphism	p.ILE3412VAL	N/A
Swiss-Prot	VAR_056761	Polymorphism	p.LEU3101ARG	N/A
Swiss-Prot	VAR_020712	Polymorphism	p.LEU613ARG	N/A
Swiss-Prot	VAR_032721	Polymorphism	p.LEU1522PHE	N/A
Swiss-Prot	VAR_032732	Disease	p.LEU2510PRO	Fanconi anemia complementation group D1 (FANCD1)
Swiss-Prot	VAR_063913	Polymorphism	p.LEU2653PRO	N/A
Swiss-Prot	VAR_056759	Polymorphism	p.LEU2686PRO	N/A
Swiss-Prot	VAR_056760	Polymorphism	p.LEU2792PRO	N/A
Swiss-Prot	VAR_018909	Polymorphism	p.LEU929SER	N/A
Swiss-Prot	VAR_008786	Polymorphism	p.LEU2480VAL	N/A
Swiss-Prot	VAR_018913	Polymorphism	p.LYS2162ARG	N/A
Swiss-Prot	VAR_008795	Polymorphism	p.LYS3257ARG	N/A
Swiss-Prot	VAR_056751	Polymorphism	p.LYS513ARG	N/A
Swiss-Prot	VAR_005086	Disease	p.LYS53ARG	Breast cancer (BC)
Swiss-Prot	VAR_032722	Disease	p.LYS1690ASN	Breast cancer (BC)
Swiss-Prot	VAR_020729	Disease	p.LYS2128ASN	Breast cancer (BC)
Swiss-Prot	VAR_020737	Disease	p.LYS2729ASN	Breast cancer (BC)
Swiss-Prot	VAR_020739	Polymorphism	p.LYS2950ASN	N/A
Swiss-Prot	VAR_018908	Polymorphism	p.LYS322GLN	N/A
Swiss-Prot	VAR_020744	Disease	p.LYS3196GLU	Breast cancer (BC)
Swiss-Prot	VAR_008767	Polymorphism	p.LYS327GLU	N/A
Swiss-Prot	VAR_020717	Polymorphism	p.LYS1445THR	N/A
Swiss-Prot	VAR_032714	Polymorphism	p.MET192THR	N/A
Swiss-Prot	VAR_005110	Disease	p.MET3118THR	Breast cancer (BC)
Swiss-Prot	VAR_008770	Polymorphism	p.MET784VAL	N/A
Swiss-Prot	VAR_020731	Polymorphism	p.PHE2293LEU	N/A
Swiss-Prot	VAR_005085	Disease	p.PHE32LEU	Breast cancer (BC)
Swiss-Prot	VAR_005088	Disease	p.PHE81LEU	Breast cancer (BC)
Swiss-Prot	VAR_020718	Polymorphism	p.PHE1524VAL	N/A
Swiss-Prot	VAR_005089	Disease	p.PRO201ARG	Breast cancer (BC)
Swiss-Prot	VAR_020727	Disease	p.PRO2096LEU	Breast cancer (BC)
Swiss-Prot	VAR_005091	Disease	p.PRO222SER	Breast cancer (BC)
Swiss-Prot	VAR_020741	Polymorphism	p.PRO3063SER	N/A
Swiss-Prot	VAR_032735	Polymorphism	p.PRO3300SER	N/A
Swiss-Prot	VAR_020714	Polymorphism	p.SER1106ARG	N/A
Swiss-Prot	VAR_056755	Polymorphism	p.SER1979ARG	N/A
Swiss-Prot	VAR_032717	Disease	p.SER326ARG	Breast cancer (BC)
Swiss-Prot	VAR_020715	Disease	p.SER1179ASN	Breast cancer (BC)
Swiss-Prot	VAR_020725	Disease	p.SER2072CYS	Breast cancer (BC)
Swiss-Prot	VAR_032720	Polymorphism	p.SER1172LEU	N/A
Swiss-Prot	VAR_035436	Polymorphism	p.SER599PHE	N/A
Swiss-Prot	VAR_018910	Polymorphism	p.SER976PHE	N/A
Swiss-Prot	VAR_018915	Polymorphism	p.SER2835PRO	N/A
Swiss-Prot	VAR_020724	Polymorphism	p.THR2031ALA	N/A
Swiss-Prot	VAR_032715	Polymorphism	p.THR225ALA	N/A
Swiss-Prot	VAR_020711	Polymorphism	p.THR598ALA	N/A
Swiss-Prot	VAR_018661	Disease	p.THR2722ARG	Breast cancer (BC)
Swiss-Prot	VAR_005111	Disease	p.THR3357ARG	Breast cancer (BC)
Swiss-Prot	VAR_020720	Disease	p.THR1679ILE	Breast cancer (BC)
Swiss-Prot	VAR_008789	Polymorphism	p.THR2515ILE	N/A
Swiss-Prot	VAR_020740	Polymorphism	p.THR3013ILE	N/A
Swiss-Prot	VAR_020745	Polymorphism	p.THR3374ILE	N/A
Swiss-Prot	VAR_020708	Polymorphism	p.THR431ILE	N/A
Swiss-Prot	VAR_005096	Polymorphism	p.THR630ILE	N/A
Swiss-Prot	VAR_032712	Disease	p.THR64ILE	Breast cancer (BC)
Swiss-Prot	VAR_008775	Polymorphism	p.THR1414MET	N/A
Swiss-Prot	VAR_032724	Disease	p.THR1887MET	Breast cancer (BC)
Swiss-Prot	VAR_005103	Polymorphism	p.THR1915MET	N/A
Swiss-Prot	VAR_008768	Polymorphism	p.THR582PRO	N/A
Swiss-Prot	VAR_028169	Disease	p.TRP31ARG	Breast cancer (BC)
Swiss-Prot	VAR_032733	Disease	p.TRP2626CYS	Fanconi anemia complementation group D1 (FANCD1)
Swiss-Prot	VAR_028168	Disease	p.TRP31CYS	Breast cancer (BC)
Swiss-Prot	VAR_020726	Disease	p.TYR2094CYS	Breast cancer (BC)
Swiss-Prot	VAR_032729	Disease	p.TYR2222CYS	Breast cancer (BC)
Swiss-Prot	VAR_020705	Polymorphism	p.TYR42CYS	N/A
Swiss-Prot	VAR_008794	Polymorphism	p.TYR3098HIS	N/A
Swiss-Prot	VAR_056754	Polymorphism	p.VAL1643ALA	N/A
Swiss-Prot	VAR_020721	Disease	p.VAL1804ALA	Breast cancer (BC)
Swiss-Prot	VAR_005090	Disease	p.VAL211ALA	Breast cancer (BC)
Swiss-Prot	VAR_032725	Polymorphism	p.VAL1988ILE	N/A
Swiss-Prot	VAR_020736	Disease	p.VAL2728ILE	Breast cancer (BC)
Swiss-Prot	VAR_018917	Polymorphism	p.VAL3244ILE	N/A
Swiss-Prot	VAR_020728	Polymorphism	p.VAL2118LEU	N/A
Swiss-Prot	VAR_005093	Polymorphism	p.VAL355LEU	N/A
Swiss-Prot	VAR_056753	Polymorphism	p.VAL1542MET	N/A
Swiss-Prot	VAR_008793	Polymorphism	p.VAL2969MET	N/A
Swiss-Prot	VAR_008784	Polymorphism	p.VAL2138PHE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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