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.K865delFs

c.2595delC

Surrounding Variants

61 papers

NM_007294.4

p.R866C

c.2596C>T

7 papers

NM_007294.4

p.R866S

c.2596C>A

3 papers

NM_007294.4

p.R866L

c.2597G>T

1 paper

NM_007294.4

p.K865N

c.2595G>T

2 papers

NM_007294.4

p.K865fs

c.2593_2594fs

3 papers

NM_007294.4

p.S864_K865insFs

c.2592_2593insA

1 paper

NM_007294.4

p.K865N

c.2595G>C

21 papers

NM_007294.4

p.R866H

c.2597G>A

1 paper

NM_007294.4

p.Q855_K865del11

c.2563_2594del33

3 papers

NM_007294.4

p.S864delFs

c.2592delT

1 paper

NM_007294.4

p.S864_K865delFs

c.2591_2594del4

1 paper

NM_007294.4

p.R866R

c.2598C>A