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.V740M

c.2218G>A

Surrounding Variants

7 papers

NM_007294.4

p.V740L

c.2218G>T

1 paper

NM_007294.4

p.V740_S741insAG

c.2218_2222ins6

18 papers

NM_007294.4

p.K739insFs

c.2217dupA

7 papers

NM_007294.4

p.V740L

c.2218G>C

7 papers

NM_007294.4

p.V740fs

c.2218_2219fs

1 paper

NM_007294.4

p.K739delFs

c.2217delT

18 papers

NM_007294.4

p.K739delFs

c.2216_2217delTT

1 paper

NM_007294.4

p.E736_V738delFs

c.2207_2214del8

1 paper

NM_007294.4

p.K739N

c.2217A>T

1 paper

NM_007294.4

p.K739N

c.2217A>C

10 papers

NM_007294.4

p.K739fs

c.2215_2216fs

3 papers

NM_007294.4

p.V740V

c.2220G>T