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

4 papers

NM_007294.4

p.N277K

c.831T>G

Surrounding Variants

1 paper

NM_007294.4

p.N277fs

c.829_830fs

4 papers

NM_007294.4

p.N277K

c.831T>A

4 papers

NM_007294.4

p.N277delFs

c.829_830delTT

1 paper

NM_007294.4

p.T278fs

c.832_833fs

2 papers

NM_007294.4

p.T278S

c.832A>T

3 papers

NM_007294.4

p.N277S

c.830A>G

1 paper

NM_007294.4

p.T278A

c.832A>G

1 paper

NM_007294.4

p.T278P

c.832A>C

1 paper

NM_007294.4

p.N277insFs

c.831dupT

1 paper

NM_007294.4

p.N277delFs

c.831delA

6 papers

NM_007294.4

p.N277fs

c.829_830fs

3 papers

NM_007294.4

p.T278I

c.833C>T