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.R951W

c.2851A>T

Surrounding Variants

1 paper

NM_007294.4

p.R951insFs

c.2851_2852ins4

3 papers

NM_007294.4

p.R951_F952insA

c.2851_2855ins3

1 paper

NM_007294.4

p.S950_R951insFs

c.2850_2851insC

1 paper

NM_007294.4

p.G949_S950delFs

c.2845_2849del5

1 paper

NM_007294.4

p.G948_S950delFs

c.2843_2849del7

1 paper

NM_007294.4

p.R951M

c.2852G>T

3 papers

NM_007294.4

p.R951fs

c.2851_2852fs

1 paper

NM_007294.4

p.R951R

c.2853G>A

2 papers

NM_007294.4

p.S950F

c.2849C>T

1 paper

NM_007294.4

p.S950insFs

c.2849_2850insT

2 papers

NM_007294.4

p.S950_R951insA

c.2848_2852ins3

3 papers

NM_007294.4

p.F952fs

c.2854_2855fs