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.R133fs

c.397_398fs

Surrounding Variants

20 papers

NM_007294.4

p.R133C

c.397C>T

2 papers

NM_007294.4

p.R133G

c.397C>G

5 papers

NM_007294.4

p.R133S

c.397C>A

7 papers

NM_007294.4

p.R131_N132del2

c.391_395del6

2 papers

NM_007294.4

p.R133L

c.398G>T

1 paper

NM_007294.4

p.R133insFs

c.397_398ins26

1 paper

NM_007294.4

p.R133P

c.398G>C

28 papers

NM_007294.4

p.R133H

c.398G>A

2 papers

NM_007294.4

p.R133delFs

c.397delG

1 paper

NM_007294.4

p.N132N

c.396C>T

32 papers

NM_007294.4

p.N132K

c.396C>G

1 paper

NM_007294.4

p.N132insFs

c.394dupA