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

2 papers

NM_007294.4

p.E402D

c.1206G>T

Surrounding Variants

1 paper

NM_007294.4

p.E402_S403insFs

c.1206_1207insCC

2 papers

NM_007294.4

p.E402fs

c.1204_1205fs

1 paper

NM_007294.4

p.E402insFs

c.1205dupA

2 papers

NM_007294.4

p.E402D

c.1206G>C

1 paper

NM_007294.4

p.E402E

c.1206G>A

2 papers

NM_007294.4

p.E402delFs

c.1205delT

2 papers

NM_007294.4

p.D400_E402delins

c.1200_1206delinsCTCACATGAACTGTTAGGT

1 paper

NM_007294.4

p.S403A

c.1207T>G

2 papers

NM_007294.4

p.S403P

c.1207T>C

2 papers

NM_007294.4

p.S403T

c.1207T>A

1 paper

NM_007294.4

p.E402insFs

c.1204_1205insGG

18 papers

NM_007294.4

p.E402delFs

c.1204delC