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.H971L

c.2912A>T

Surrounding Variants

7 papers

NM_007294.4

p.H971R

c.2912A>G

3 papers

NM_007294.4

p.H971delFs

c.2911delG

1 paper

NM_007294.4

p.H971H

c.2913T>C

4 papers

NM_007294.4

p.H971fs

c.2911_2912fs

1 paper

NM_007294.4

p.N969_H971delFs

c.2905_2912del8

4 papers

NM_007294.4

p.H971D

c.2911C>G

4 papers

NM_007294.4

p.K970insFs

c.2910dupA

1 paper

NM_007294.4

p.K970delFs

c.2910delT

2 papers

NM_007294.4

p.N969_K970delFs

c.2907_2910del4

1 paper

NM_007294.4

p.N969_K970del2

c.2905_2909del6

13 papers

NM_007294.4

p.G972*

c.2914G>T

1 paper

NM_007294.4

p.G972_L973insT

c.2914_2918ins3