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.K820R

c.2459A>G

Surrounding Variants

1 paper

NM_007294.4

p.K820N

c.2460A>T

54 papers

NM_007294.4

p.K820E

c.2458A>G

1 paper

NM_007294.4

p.K820N

c.2460A>C

1 paper

NM_007294.4

p.K820Q

c.2458A>C

35 papers

NM_007294.4

p.S819delFs

c.2457delG

1 paper

NM_007294.4

p.C818_S819del2

c.2452_2456del6

14 papers

NM_007294.4

p.D821fs

c.2461_2462fs

2 papers

NM_007294.4

p.D821Y

c.2461G>T

1 paper

NM_007294.4

p.D821N

c.2461G>A

21 papers

NM_007294.4

p.S819S

c.2457C>T

1 paper

NM_007294.4

p.S819S

c.2457C>G

5 papers

NM_007294.4

p.S819fs

c.2455_2456fs