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

134 papers

NM_007294.4

p.S694S

c.2082C>T

Surrounding Variants

2 papers

NM_007294.4

p.S694R

c.2082C>G

1 paper

NM_007294.4

p.S694_D695insFs

c.2082_2083insG

1 paper

NM_007294.4

p.S694fs

c.2080_2081fs

1 paper

NM_007294.4

p.S694_D695insFs

c.2082_2083insA

2 papers

NM_007294.4

p.S694R

c.2082C>A

1 paper

NM_007294.4

p.S694Fs

c.2080_2082delinsTFs

1 paper

NM_007294.4

p.D693_S694delins

c.2077_2082delinsAACAGT

26 papers

NM_007294.4

p.D695Y

c.2083G>T

4 papers

NM_007294.4

p.S694insFs

c.2081_2082insT

1 paper

NM_007294.4

p.S694insFs

c.2081_2082insC

35 papers

NM_007294.4

p.S694insFs

c.2080_2081insA

13 papers

NM_007294.4

p.D695N

c.2083G>A