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.R170L

c.509G>T

Surrounding Variants

1 paper

NM_007294.4

p.R170insFs

c.509_510insTG

1 paper

NM_007294.4

p.R170P

c.509G>C

32 papers

NM_007294.4

p.R170Q

c.509G>A

1 paper

NM_007294.4

p.R170insFs

c.509_510insGT

3 papers

NM_007294.4

p.R170fs

c.508_509fs

5 papers

NM_007294.4

p.R170fs

c.508_509fs

17 papers

NM_007294.4

p.R170W

c.508C>T

2 papers

NM_007294.4

p.R170G

c.508C>G

1 paper

NM_007294.4

p.R170_I171insA

c.508_512ins3

1 paper

NM_007294.4

p.R170_I171ins9

c.508_512ins27

2 papers

NM_007294.4

p.Q169H

c.507G>T

2 papers

NM_007294.4

p.Q169H

c.507G>C