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.T278T

c.834T>G

Surrounding Variants

1 paper

NM_007294.4

p.T278insFs

c.833_834insC

1 paper

NM_007294.4

p.T278_H279insFs

c.834_835insA

8 papers

NM_007294.4

p.H279fs

c.835_836fs

3 papers

NM_007294.4

p.T278I

c.833C>T

2 papers

NM_007294.4

p.H279Y

c.835C>T

4 papers

NM_007294.4

p.T278S

c.833C>G

1 paper

NM_007294.4

p.H279D

c.835C>G

3 papers

NM_007294.4

p.T278insFs

c.833_834insA

3 papers

NM_007294.4

p.T278N

c.833C>A

1 paper

NM_007294.4

p.H279N

c.835C>A

2 papers

NM_007294.4

p.N277_T278delFs

c.829_832del4

1 paper

NM_007294.4

p.T278fs

c.832_833fs