Results for the protein: O15360

Results for the Protein: O15360

147744560

2175

FANCA

NCBI, UniProt

FANCA_HUMAN RecName: Full=Fanconi anemia group A protein; Short=Protein FACA

Known Diseases associated with this Protein:
FANCONI ANEMIA (FA)
FANCONI ANEMIA, COMPLEMENTATION GROUP A

30

20

1

6

43

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Default View: Fanconi_A - pfam03511	Swiss-Prot Protein: O15360 Identical to: NP_000126 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Fanconi_A	pfam03511	2.6e-20	1253	1316

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_050984	Polymorphism	p.ALA277GLY	N/A
Swiss-Prot	VAR_038020	Polymorphism	p.ALA1346THR	N/A
dbSNP	rs17232246	Disease	p.ALA181VAL	Fanconi anemia (FA)
Swiss-Prot	VAR_050986	Polymorphism	p.ALA412VAL	N/A
Swiss-Prot	VAR_009642	Disease	p.ARG435CYS	Fanconi anemia (FA)
Swiss-Prot	VAR_038017	Polymorphism	p.ARG951GLN	N/A
Swiss-Prot	VAR_009651	Disease	p.ARG1117GLY	Fanconi anemia (FA)
Swiss-Prot	VAR_038021	Disease	p.ARG1400HIS	Fanconi anemia (FA)
Swiss-Prot	VAR_009649	Disease	p.ARG1055LEU	Fanconi anemia (FA)
Swiss-Prot	VAR_017499	Disease	p.ARG1055TRP	Fanconi anemia (FA)
Swiss-Prot	VAR_038018	Polymorphism	p.ARG951TRP	N/A
Swiss-Prot	VAR_009638	Polymorphism	p.ASN8LYS	N/A
Swiss-Prot	VAR_017497	Disease	p.ASP598ASN	Fanconi anemia (FA)
Swiss-Prot	VAR_009641	Disease	p.ASP252GLY	Fanconi anemia (FA)
dbSNP	rs17225943	Polymorphism	p.ASP252GLY	N/A
Swiss-Prot	VAR_017503	Disease	p.ASP1359TYR	Fanconi anemia (FA)
Swiss-Prot	VAR_050985	Polymorphism	p.GLN286ARG	N/A
Swiss-Prot	VAR_009652	Disease	p.GLN1128GLU	Fanconi anemia (FA)
Swiss-Prot	VAR_038016	Disease	p.GLN869PRO	Fanconi anemia (FA)
Swiss-Prot	VAR_009646	Polymorphism	p.GLY809ASP	N/A
dbSNP	rs2239359	Polymorphism	p.GLY501SER	N/A
Swiss-Prot	VAR_009643	Disease	p.HIS492ARG	Fanconi anemia (FA)
Swiss-Prot	VAR_009658	Disease	p.HIS1417ASP	Fanconi anemia (FA)
Swiss-Prot	VAR_009650	Disease	p.HIS1110PRO	Fanconi anemia (FA)
Swiss-Prot	VAR_038012	Disease	p.LEU210ARG	Fanconi anemia (FA)
Swiss-Prot	VAR_009640	Disease	p.LEU244PHE	Fanconi anemia (FA)
Swiss-Prot	VAR_017500	Disease	p.LEU1082PRO	Fanconi anemia (FA)
Swiss-Prot	VAR_038019	Disease	p.LEU1249PRO	Fanconi anemia (FA)
Swiss-Prot	VAR_038013	Disease	p.LEU660PRO	Fanconi anemia (FA)
Swiss-Prot	VAR_009647	Disease	p.LEU817PRO	Fanconi anemia (FA)
Swiss-Prot	VAR_009648	Disease	p.LEU845PRO	Fanconi anemia (FA)
Swiss-Prot	VAR_017504	Disease	p.MET1360ILE	Fanconi anemia (FA)
Swiss-Prot	VAR_061649	Polymorphism	p.MET717ILE	N/A
Swiss-Prot	VAR_017502	Disease	p.PHE1262LEU	Fanconi anemia (FA)
Swiss-Prot	VAR_050987	Polymorphism	p.PRO643ALA	N/A
Swiss-Prot	VAR_017505	Disease	p.PRO1324LEU	Fanconi anemia (FA)
Swiss-Prot	VAR_009645	Polymorphism	p.PRO739LEU	N/A
Swiss-Prot	VAR_017498	Disease	p.SER858ARG	Fanconi anemia (FA)
dbSNP	rs17233497	Disease	p.SER1088PHE	Fanconi anemia (FA)
Swiss-Prot	VAR_050983	Polymorphism	p.SER176PHE	N/A
Swiss-Prot	VAR_009653	Disease	p.THR1131ALA	Fanconi anemia (FA)
Swiss-Prot	VAR_009657	Polymorphism	p.THR1328ALA	N/A
Swiss-Prot	VAR_017496	Polymorphism	p.THR266ALA	N/A
Swiss-Prot	VAR_050982	Polymorphism	p.THR131SER	N/A
Swiss-Prot	VAR_009656	Disease	p.TRP1302ARG	Fanconi anemia (FA)
Swiss-Prot	VAR_038015	Disease	p.TYR843ASP	Fanconi anemia (FA)
dbSNP	rs1800282	Polymorphism	p.VAL6ASP	N/A
Swiss-Prot	VAR_038014	Polymorphism	p.VAL761GLU	N/A
dbSNP	rs17227354	Polymorphism	p.VAL1287ILE	N/A
OMIM	607139.0009	Disease	p.TRP171TER	FANCONI ANEMIA, COMPLEMENTATION GROUP 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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