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

2 papers

NM_007294.4

p.L51insFs

c.151_152insC

Surrounding Variants

6 papers

NM_007294.4

p.L51R

c.152T>G

13 papers

NM_007294.4

p.L51P

c.152T>C

6 papers

NM_007294.4

p.L51H

c.152T>A

1 paper

NM_007294.4

p.L51delFs

c.151delG

2 papers

NM_007294.4

p.L51delins

c.151_152delinsGC

2 papers

NM_007294.4

p.L51L

c.153T>G

1 paper

NM_007294.4

p.L51L

c.153T>C

2 papers

NM_007294.4

p.L51L

c.153T>A

1 paper

NM_007294.4

p.L49_K50del2

c.145_149del6

6 papers

NM_007294.4

p.L51F

c.151C>T

6 papers

NM_007294.4

p.L51V

c.151C>G

1 paper

NM_007294.4

p.K50insFs

c.148_149insA