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.I89_G98del10

c.265_293del30

Surrounding Variants

1 paper

NM_007294.4

p.I89_G98insFs

c.267_294dup28

5 papers

NM_007294.4

p.L99V

c.295T>G

1 paper

NM_007294.4

p.L99L

c.295T>C

2 papers

NM_007294.4

p.L99M

c.295T>A

1 paper

NM_007294.4

p.D96_G98del3

c.286_293del9

3 papers

NM_007294.4

p.L99fs

c.295_296fs

1 paper

NM_007294.4

p.G98insFs

c.292dupG

2 papers

NM_007294.4

p.L99W

c.296T>G

3 papers

NM_007294.4

p.L99S

c.296T>C

2 papers

NM_007294.4

p.G98G

c.294T>C

2 papers

NM_007294.4

p.L99*

c.296T>A

9 papers

NM_007294.4

p.G98V

c.293G>T