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

4 papers

NM_007294.4

p.R1583_R1589del7

c.4747_4766del21

Surrounding Variants

1 paper

NM_007294.4

p.V1590I

c.4768G>A

2 papers

NM_007294.4

p.V1590A

c.4769T>C

1 paper

NM_007294.4

p.R1589delFs

c.4766delC

1 paper

NM_007294.4

p.R1589P

c.4766G>C

31 papers

NM_007294.4

p.R1589H

c.4766G>A

2 papers

NM_007294.4

p.A1588_R1589delFs

c.4764_4765delGA

2 papers

NM_007294.4

p.R1589fs

c.4765_4766fs

1 paper

NM_007294.4

p.G1591R

c.4771G>C

6 papers

NM_007294.4

p.G1591S

c.4771G>A

1 paper

NM_007294.4

p.S1587_V1590del4

c.4759_4769del12

16 papers

NM_007294.4

p.R1589C

c.4765C>T

1 paper

NM_007294.4

p.R1589G

c.4765C>G