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

36 papers

NM_007294.4

p.C61R

c.181T>C

Surrounding Variants

1 paper

NM_007294.4

p.C61_P62insA

c.181_185ins3

981 papers

NM_007294.4

p.C61G

c.181T>G

NM_007297.4

p.C14G

c.40T>G

27 papers

NM_007294.4

p.C61S

c.181T>A

1 paper

NM_007294.4

p.G57_Q60del4

c.169_179del12

1 paper

NM_007294.4

p.K55_Q60delFs

c.165_180del16

3 papers

NM_007294.4

p.Q54_Q60del0

c.162_179del18

6 papers

NM_007294.4

p.Q60H

c.180G>T

5 papers

NM_007294.4

p.C61F

c.182G>T

2 papers

NM_007294.4

p.C61insFs

c.182_183insT

2 papers

NM_007294.4

p.Q60fs

c.178_179fs

1 paper

NM_007294.4

p.Q60insFs

c.179dupA

21 papers

NM_007294.4

p.C61S

c.182G>C