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

37 papers

NM_007294.4

p.K991E

c.2971A>G

Surrounding Variants

6 papers

NM_007294.4

p.K991*

c.2971A>T

1 paper

NM_007294.4

p.K991Q

c.2971A>C

2 papers

NM_007294.4

p.F989_V990delFs

c.2967_2970del4

1 paper

NM_007294.4

p.I986_V990delFs

c.2957_2969del13

1 paper

NM_007294.4

p.K991fs

c.2971_2972fs

1 paper

NM_007297.4

p.K940_K944delins

c.2820_2830delinsAAGATAAGCCAGTTTGATAA

20 papers

NM_007294.4

p.K991R

c.2972A>G

9 papers

NM_007294.4

p.V990A

c.2969T>C

2 papers

NM_007294.4

p.V990delFs

c.2968delC

2 papers

NM_007294.4

p.K991N

c.2973A>T

3 papers

NM_007294.4

p.K991N

c.2973A>C

2 papers

NM_007294.4

p.K991fs

c.2971_2972fs