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.S1189R

c.3567T>G

Surrounding Variants

3 papers

NM_007294.4

p.P1190fs

c.3568_3569fs

1 paper

NM_007294.4

p.S1189I

c.3566G>T

7 papers

NM_007294.4

p.P1190S

c.3568C>T

1 paper

NM_007294.4

p.P1190A

c.3568C>G

2 papers

NM_007294.4

p.P1190_S1191ins4

c.3568_3572ins12

1 paper

NM_007294.4

p.S1189fs

c.3565_3566fs

6 papers

NM_007294.4

p.P1190L

c.3569C>T

2 papers

NM_007294.4

p.P1190H

c.3569C>A

2 papers

NM_007294.4

p.S1189C

c.3565A>T

2 papers

NM_007294.4

p.R1188insFs

c.3564dupG

2 papers

NM_007294.4

p.S1189_P1190ins4

c.3565_3569ins12

1 paper

NM_007294.4

p.E1185_R1188delFs

c.3555_3564del10