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.F1571delFs

c.4712_4713delGA

Surrounding Variants

4 papers

NM_007294.4

p.D1573fs

c.4717_4718fs

1 paper

NM_007294.4

p.D1573H

c.4717G>C

3 papers

NM_007294.4

p.D1573N

c.4717G>A

1 paper

NM_007294.4

p.S1572del1

c.4714_4715delAGA

12 papers

NM_007294.4

p.F1571_S1572delFs

c.4712_4716del5

1 paper

NM_007294.4

p.S1572fs

c.4714_4715fs

1 paper

NM_007294.4

p.S1572delFs

c.4715delG

1 paper

NM_007294.4

p.F1571_S1572del1

c.4713_4715delGAG

1 paper

NM_007294.4

p.D1573G

c.4718A>G

7 papers

NM_007294.4

p.D1573delFs

c.4717delC

1 paper

NM_007294.4

p.S1572F

c.4715C>T

1 paper

NM_007294.4

p.S1572C

c.4715C>G