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.L1260_L1263delFs

c.3779_3788del10

Surrounding Variants

1 paper

NM_007294.4

p.L1263S

c.3788T>C

2 papers

NM_007294.4

p.L1263*

c.3788T>A

2 papers

NM_007294.4

p.S1262del1

c.3784_3785delTGA

1 paper

NM_007294.4

p.K1264fs

c.3790_3791fs

1 paper

NM_007294.4

p.K1264*

c.3790A>T

1 paper

NM_007294.4

p.K1264insFs

c.3790_3791insC

1 paper

NM_007294.4

p.L1263_K1264delins

c.3789_3790delinsTT

1 paper

NM_007294.4

p.L1263V

c.3787T>G

1 paper

NM_007294.4

p.N1255_S1262delFs

c.3765_3786del22

1 paper

NM_007294.4

p.K1264R

c.3791A>G

1 paper

NM_007294.4

p.K1264T

c.3791A>C

1 paper

NM_007294.4

p.K1264insFs

c.3791_3792ins4