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.N1034D

c.3100A>G

Surrounding Variants

1 paper

NM_007294.4

p.N1034fs

c.3100_3101fs

1 paper

NM_007294.4

p.N1034H

c.3100A>C

1 paper

NM_007294.4

p.N1034_V1035insC

c.3100_3104ins3

1 paper

NM_007294.4

p.N1034I

c.3101A>T

2 papers

NM_007294.4

p.N1034S

c.3101A>G

2 papers

NM_007294.4

p.N1034T

c.3101A>C

1 paper

NM_007294.4

p.E1033fs

c.3097_3098fs

1 paper

NM_007294.4

p.R1032_E1033delFs

c.3096_3097delCT

1 paper

NM_007294.4

p.R1032_E1033del2

c.3094_3098del6

1 paper

NM_007294.4

p.I1031_E1033del3

c.3091_3098del9

2 papers

NM_007294.4

p.N1034fs

c.3100_3101fs

3 papers

NM_007294.4

p.N1034insFs

c.3101dupA