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

1 paper

NM_007294.4

p.S264insFs

c.791_792insAT

Surrounding Variants

2 papers

NM_007294.4

p.S264I

c.791G>T

2 papers

NM_007294.4

p.S264N

c.791G>A

2 papers

NM_007294.4

p.S264fs

c.790_791fs

9 papers

NM_007294.4

p.S264R

c.792T>G

8 papers

NM_007294.4

p.S264R

c.792T>A

10 papers

NM_007294.4

p.S264fs

c.790_791fs

2 papers

NM_007294.4

p.S264C

c.790A>T

8 papers

NM_007294.4

p.S264R

c.790A>C

5 papers

NM_007294.4

p.Q262_G263del2

c.784_788del6

7 papers

NM_007294.4

p.G263insFs

c.788dupG

1 paper

NM_007294.4

p.S265P

c.793T>C

1 paper

NM_007294.4

p.G263G

c.789T>C