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

48 papers

NM_007294.4

p.G1770V

c.5309G>T

Surrounding Variants

5 papers

NM_007294.4

p.G1770A

c.5309G>C

5 papers

NM_007294.4

p.G1770E

c.5309G>A

5 papers

NM_007294.4

p.G1770W

c.5308G>T

1 paper

NM_007294.4

p.G1770G

c.5310G>T

1 paper

NM_007294.4

p.G1770insFs

c.5308_5309ins11

1 paper

NM_007294.4

p.G1770fs

c.5308_5309fs

2 papers

NM_007294.4

p.G1770R

c.5308G>C

6 papers

NM_007294.4

p.G1770G

c.5310G>A

2 papers

NM_007294.4

p.G1770R

c.5308G>A

2 papers

NM_007294.4

p.C1767_Y1769del0

c.5299_5307del9

1 paper

NM_007294.4

p.I1766_Y1769del4

c.5296_5306del12

1 paper

NM_007294.4

p.I1760_Y1769del10

c.5278_5306del30