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

3 papers

NM_007294.4

p.E227D

c.681A>T

Surrounding Variants

1 paper

NM_007294.4

p.E227E

c.681A>G

2 papers

NM_007294.4

p.E227D

c.681A>C

1 paper

NM_007294.4

p.E227_F228insFs

c.681_682insT

1 paper

NM_007294.4

p.F228insFs

c.682_683ins10

1 paper

NM_007294.4

p.F228V

c.682T>G

3 papers

NM_007294.4

p.F228I

c.682T>A

1 paper

NM_007294.4

p.A224_E227delFs

c.671_681del11

1 paper

NM_007294.4

p.F228insFs

c.683_684ins7

1 paper

NM_007294.4

p.F228insFs

c.683_684ins10

2 papers

NM_007294.4

p.F228Y

c.683T>A

1 paper

NM_007294.4

p.C226_E227delFs

c.678_681del4

11 papers

NM_007294.4

p.E227*

c.679G>T