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

40 papers

NM_007294.4

p.P1238L

c.3713C>T

Surrounding Variants

8 papers

NM_007294.4

p.P1238R

c.3713C>G

1 paper

NM_007294.4

p.P1238H

c.3713C>A

6 papers

NM_007294.4

p.P1238fs

c.3712_3713fs

1 paper

NM_007294.4

p.P1238delFs

c.3713delG

3 papers

NM_007294.4

p.P1238fs

c.3712_3713fs

4 papers

NM_007294.4

p.N1236_P1238delFs

c.3706_3713del8

5 papers

NM_007294.4

p.P1238S

c.3712C>T

1 paper

NM_007294.4

p.P1238A

c.3712C>G

1 paper

NM_007294.4

p.P1238insFs

c.3712_3713insTT

2 papers

NM_007294.4

p.P1238insFs

c.3712_3713insG

7 papers

NM_007294.4

p.I1237insFs

c.3710_3711dupTA

2 papers

NM_007294.4

p.I1237delFs

c.3710_3711delTA