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.Y1716insFs

c.5146_5147insT

Surrounding Variants

3 papers

NM_007294.4

p.Y1716F

c.5147A>T

12 papers

NM_007294.4

p.Y1716C

c.5147A>G

6 papers

NM_007294.4

p.Y1716S

c.5147A>C

1 paper

NM_007294.4

p.Y1716insFs

c.5147_5148insC

1 paper

NM_007294.4

p.Y1716_F1717insFs

c.5148_5149insC

1 paper

NM_007294.4

p.Y1716_F1717insA

c.5146_5150ins3

1 paper

NM_007294.4

p.Y1716insFs

c.5146_5147ins4

9 papers

NM_007294.4

p.Y1716*

c.5148T>G

3 papers

NM_007294.4

p.Y1716D

c.5146T>G

4 papers

NM_007294.4

p.Y1716H

c.5146T>C

8 papers

NM_007294.4

p.Y1716*

c.5148T>A

4 papers

NM_007294.4

p.Y1716N

c.5146T>A