Results for the protein: Q99728

Results for the Protein: Q99728

116241265

580

BARD1

NCBI, UniProt

BARD1_HUMAN RecName: Full=BRCA1-associated RING domain protein 1; Short=BARD-1

Known Diseases associated with this Protein:
BREAST CANCER, SUSCEPTIBILITY TO

1

13

1

7

6

Tips:

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Default View: RING - cd00162 Arp - COG0666 ANK - cd00204 Ank - pfam00023 ANK - smart00248 BRCT - pfam00533 BRCT - smart00292 BRCT - cd00027	Swiss-Prot Protein: Q99728 Identical to: NP_000456 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Arp	COG0666	5.8e-17	359	583
ANK	cd00204	9.2e-36	422	544
BRCT	cd00027	3.1e-13	568	641
BRCT	cd00027	8.6e-13	674	768
Ank	pfam00023	1.9e-07	427	459
Ank	pfam00023	6.5e-08	460	492
Ank	pfam00023	6.9e-09	493	525
BRCT	pfam00533	0.0006	561	640
ANK	smart00248	1.9e-05	427	456
ANK	smart00248	2.2e-07	460	489
ANK	smart00248	6.6e-08	493	522
BRCT	smart00292	3e-11	561	643
BRCT	smart00292	2.7e-11	670	770

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3738888	Polymorphism	p.ARG658CYS	N/A
dbSNP	rs2229571	Polymorphism	p.ARG378SER	N/A
dbSNP	rs2228456	Polymorphism	p.CYS645ARG	N/A
dbSNP	rs28997576	Polymorphism	p.CYS557SER	N/A
Swiss-Prot	VAR_010358	Polymorphism	p.GLN564HIS	N/A
Swiss-Prot	VAR_010355	Polymorphism	p.LYS153GLU	N/A
dbSNP	rs1048108	Polymorphism	p.PRO24SER	N/A
Swiss-Prot	VAR_010361	Polymorphism	p.SER761ASN	N/A
dbSNP	rs3738885	Polymorphism	p.SER241CYS	N/A
Swiss-Prot	VAR_038371	Polymorphism	p.SER186GLY	N/A
Swiss-Prot	VAR_028309	Polymorphism	p.SER728PHE	N/A
Swiss-Prot	VAR_010360	Polymorphism	p.VAL695LEU	N/A
dbSNP	rs2070094	Polymorphism	p.VAL507MET	N/A
OMIM	601593.0001	Disease	p.CYS557SER	BREAST CANCER, SUSCEPTIBILITY TO

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