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

1 paper

NM_007294.4

p.E1754delFs

c.5260_5261delTC

Surrounding Variants

3 papers

NM_007294.4

p.E1754D

c.5262A>T

6 papers

NM_007294.4

p.E1754D

c.5262A>C

2 papers

NM_007294.4

p.E1754fs

c.5260_5261fs

48 papers

NM_007294.4

p.S1755insFs

c.5263_5264insC

3 papers

NM_007294.4

p.S1755A

c.5263T>G

3 papers

NM_007294.4

p.S1755P

c.5263T>C

2 papers

NM_007294.4

p.S1755T

c.5263T>A

9 papers

NM_007294.4

p.E1754V

c.5261A>T

4 papers

NM_007294.4

p.E1754G

c.5261A>G

2 papers

NM_007294.4

p.E1754A

c.5261A>C

1 paper

NM_007294.4

p.R1737_A1752del16

c.5209_5255del48

24 papers

NM_007294.4

p.E1754*

c.5260G>T