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

60 papers

NM_007294.4

p.A1623G

c.4868C>G

Surrounding Variants

3 papers

NM_007294.4

p.A1623V

c.4868C>T

1 paper

NM_007294.4

p.A1623delFs

c.4867delC

1 paper

NM_007294.4

p.A1623A

c.4869T>C

3 papers

NM_007294.4

p.A1623fs

c.4867_4868fs

2 papers

NM_007294.4

p.A1623T

c.4867G>A

4 papers

NM_007294.4

p.T1622delFs

c.4866delA

1 paper

NM_007294.4

p.T1622T

c.4866T>C

1 paper

NM_007294.4

p.G1624W

c.4870G>T

3 papers

NM_007294.4

p.G1624insFs

c.4870_4871insA

1 paper

NM_007294.4

p.A1623delFs

c.4869delA

3 papers

NM_007294.4

p.G1624fs

c.4870_4871fs

2 papers

NM_007294.4

p.G1624A

c.4871G>C