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.K307_S308ins8

c.919_923ins24

Surrounding Variants

10 papers

NM_007294.4

p.K307E

c.919A>G

2 papers

NM_007294.4

p.N306insFs

c.918dupT

1 paper

NM_007294.4

p.F304_N306insFs

c.911_918dup8

2 papers

NM_007294.4

p.C305_N306delFs

c.915_918del4

1 paper

NM_007294.4

p.A302_N306del5

c.904_917del15

2 papers

NM_007294.4

p.N306insFs

c.917dupA

2 papers

NM_007294.4

p.N306N

c.918T>C

2 papers

NM_007294.4

p.K307R

c.920A>G

3 papers

NM_007294.4

p.N306delFs

c.917_918delAT

2 papers

NM_007294.4

p.N306S

c.917A>G

1 paper

NM_007294.4

p.K307_S308insFs

c.921_922insT

1 paper

NM_007294.4

p.N306insFs

c.917_918ins4