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

46 papers

NM_007294.4

p.W1782*

c.5345G>A

Surrounding Variants

1 paper

NM_007294.4

p.W1782L

c.5345G>T

1 paper

NM_007294.4

p.W1782S

c.5345G>C

1 paper

NM_007294.4

p.W1782delFs

c.5344delA

2 papers

NM_007294.4

p.W1782insFs

c.5344_5345insA

1 paper

NM_007294.4

p.W1782G

c.5344T>G

5 papers

NM_007294.4

p.W1782R

c.5344T>C

5 papers

NM_007294.4

p.W1782R

c.5344T>A

3 papers

NM_007294.4

p.W1782C

c.5346G>T

3 papers

NM_007294.4

p.W1782C

c.5346G>C

56 papers

NM_007294.4

p.W1782*

c.5346G>A

1 paper

NM_007294.4

p.M1783fs

c.5347_5348fs

34 papers

NM_007294.4

p.M1783L

c.5347A>T