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

17 papers

NM_007294.4

p.G401E

c.1202G>A

Surrounding Variants

3 papers

NM_007294.4

p.G401A

c.1202G>C

1 paper

NM_007294.4

p.G401W

c.1201G>T

3 papers

NM_007294.4

p.G401insFs

c.1201_1202insA

1 paper

NM_007294.4

p.G401R

c.1201G>C

2 papers

NM_007294.4

p.G401R

c.1201G>A

1 paper

NM_007294.4

p.D400delFs

c.1200delA

2 papers

NM_007294.4

p.H399_D400del2

c.1195_1199del6

2 papers

NM_007294.4

p.D400_G401insFs

c.1200_1201insA

1 paper

NM_007294.4

p.D400E

c.1200T>G

1 paper

NM_007294.4

p.D400E

c.1200T>A

1 paper

NM_007294.4

p.D400delFs

c.1198_1199delTC

1 paper

NM_007294.4

p.D396_D400delFs

c.1186_1199del14