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

6 papers

NM_007294.4

p.H1672Q

c.5016C>G

Surrounding Variants

1 paper

NM_007294.4

p.H1672H

c.5016C>T

6 papers

NM_007294.4

p.H1672Q

c.5016C>A

5 papers

NM_007294.4

p.H1673Y

c.5017C>T

6 papers

NM_007294.4

p.H1673D

c.5017C>G

5 papers

NM_007294.4

p.H1673N

c.5017C>A

1 paper

NM_007294.4

p.A1669_H1672del4

c.5005_5015del12

1 paper

NM_007294.4

p.H1673fs

c.5017_5018fs

6 papers

NM_007294.4

p.H1672L

c.5015A>T

5 papers

NM_007294.4

p.H1672R

c.5015A>G

6 papers

NM_007294.4

p.H1672P

c.5015A>C

8 papers

NM_007294.4

p.H1672Y

c.5014C>T

4 papers

NM_007294.4

p.H1672D

c.5014C>G