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

8 papers

NM_007294.4

p.N66_D67insA

c.196_200ins3

Surrounding Variants

1 paper

NM_007294.4

p.N66fs

c.196_197fs

10 papers

NM_007294.4

p.N66Y

c.196A>T

10 papers

NM_007294.4

p.N66D

c.196A>G

5 papers

NM_007294.4

p.N66H

c.196A>C

4 papers

NM_007294.4

p.K65delFs

c.195delC

1 paper

NM_007294.4

p.C64_K65del2

c.190_194del6

1 paper

NM_007294.4

p.P62_K65del4

c.184_194del12

1 paper

NM_007294.4

p.G57_K65del0

c.171_194del24

9 papers

NM_007294.4

p.K65N

c.195G>T

2 papers

NM_007294.4

p.K65_N66ins2

c.195_196ins6

1 paper

NM_007294.4

p.K65fs

c.193_194fs

1 paper

NM_007294.4

p.K65_N66insFs

c.195_196insA