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

112 papers

NM_007294.4

p.G1738R

c.5212G>C

Surrounding Variants

2 papers

NM_007294.4

p.G1738*

c.5212G>T

123 papers

NM_007294.4

p.G1738R

c.5212G>A

4 papers

NM_007294.4

p.G1738fs

c.5212_5213fs

16 papers

NM_007294.4

p.G1738V

c.5213G>T

10 papers

NM_007294.4

p.G1738A

c.5213G>C

79 papers

NM_007294.4

p.G1738E

c.5213G>A

13 papers

NM_007294.4

p.R1737_G1738delFs

c.5211_5212delCT

7 papers

NM_007294.4

p.R1737S

c.5211A>T

1 paper

NM_007294.4

p.R1737R

c.5211A>G

7 papers

NM_007294.4

p.R1737S

c.5211A>C

2 papers

NM_007294.4

p.R1737fs

c.5209_5210fs

1 paper

NM_007294.4

p.E1735_V1736delFs

c.5205_5208del4