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

3 papers

NM_007294.4

p.V1736delFs

c.5207delA

Surrounding Variants

1 paper

NM_007294.4

p.V1736V

c.5208C>T

1 paper

NM_007294.4

p.V1736V

c.5208C>A

23 papers

NM_007294.4

p.V1736G

c.5207T>G

90 papers

NM_007294.4

p.V1736A

c.5207T>C

5 papers

NM_007294.4

p.V1736D

c.5207T>A

1 paper

NM_007294.4

p.H1732_V1736delFs

c.5194_5206del13

8 papers

NM_007294.4

p.R1737*

c.5209A>T

6 papers

NM_007294.4

p.R1737G

c.5209A>G

1 paper

NM_007294.4

p.R1737insFs

c.5209_5210insC

3 papers

NM_007294.4

p.R1737fs

c.5209_5210fs

1 paper

NM_007294.4

p.V1736delFs

c.5207_5208delGA

8 papers

NM_007294.4

p.R1737I

c.5210G>T