Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007294.4

p.E1288fs

c.3862_3863fs

Surrounding Variants

1 paper

NM_007294.4

p.E1288V

c.3863A>T

1 paper

NM_007294.4

p.T1289A

c.3865A>G

1 paper

NM_007294.4

p.E1288G

c.3863A>G

2 papers

NM_007294.4

p.T1289P

c.3865A>C

5 papers

NM_007294.4

p.E1288delFs

c.3862delC

1 paper

NM_007294.4

p.E1287_E1288delFs

c.3859_3862del4

2 papers

NM_007294.4

p.T1289fs

c.3865_3866fs

1 paper

NM_007294.4

p.E1287_E1288delFs

c.3861_3864del4

1 paper

NM_007294.4

p.E1288*

c.3862G>T

2 papers

NM_007294.4

p.E1288Q

c.3862G>C

1 paper

NM_007294.4

p.E1287delFs

c.3859_3860delTC

33 papers

NM_007294.4

p.S1286_E1287delFs

c.3858_3861del4