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

61 papers

NM_007294.4

p.Q1111fs

c.3331_3332fs

Surrounding Variants

21 papers

NM_007294.4

p.Q1111*

c.3331C>T

1 paper

NM_007294.4

p.Q1111E

c.3331C>G

3 papers

NM_007294.4

p.Q1111insFs

c.3331_3332insG

1 paper

NM_007294.4

p.K1110delFs

c.3330delC

2 papers

NM_007294.4

p.K1110delFs

c.3329_3330delCT

24 papers

NM_007294.4

p.K1110del1

c.3328_3330delCTT

1 paper

NM_007294.4

p.K1109_K1110delFs

c.3327_3330del4

1 paper

NM_007294.4

p.K1109_K1110del2

c.3325_3329del6

1 paper

NM_007294.4

p.K1110N

c.3330G>T

7 papers

NM_007294.4

p.K1110fs

c.3328_3329fs

21 papers

NM_007294.4

p.K1110insFs

c.3329dupA

1 paper

NM_007294.4

p.K1110insFs

c.3328_3329dupAA