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

6 papers

NM_007294.4

p.S387delFs

c.1159delA

Surrounding Variants

1 paper

NM_007294.4

p.S387F

c.1160C>T

2 papers

NM_007294.4

p.S387C

c.1160C>G

6 papers

NM_007294.4

p.S387insFs

c.1159dupT

1 paper

NM_007294.4

p.S387Y

c.1160C>A

1 paper

NM_007294.4

p.F386_S387delFs

c.1158_1159delAA

1 paper

NM_007294.4

p.S387_R388insC

c.1159_1163ins3

2 papers

NM_007294.4

p.S387A

c.1159T>G

3 papers

NM_007294.4

p.S387P

c.1159T>C

12 papers

NM_007294.4

p.S387T

c.1159T>A

1 paper

NM_007294.4

p.W385_F386delFs

c.1154_1158del5

4 papers

NM_007294.4

p.S387fs

c.1159_1160fs

1 paper

NM_007294.4

p.S387S

c.1161C>A