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.L218delFs

c.653delA

Surrounding Variants

1 paper

NM_007294.4

p.L218F

c.654G>T

1 paper

NM_007294.4

p.L218F

c.654G>C

1 paper

NM_007294.4

p.L218_D219ins1

c.654_655insGTG

2 papers

NM_007294.4

p.D219insFs

c.655_656insA

2 papers

NM_007294.4

p.D219H

c.655G>C

9 papers

NM_007294.4

p.D219N

c.655G>A

2 papers

NM_007294.4

p.L218V

c.652T>G

3 papers

NM_007294.4

p.L218L

c.652T>C

1 paper

NM_007294.4

p.L218M

c.652T>A

1 paper

NM_007294.4

p.Q202_S217del16

c.604_650del48

1 paper

NM_007294.4

p.L218fs

c.652_653fs

4 papers

NM_007294.4

p.D219V

c.656A>T