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.D1557E

c.4671T>G

Surrounding Variants

1 paper

NM_007294.4

p.D1557E

c.4671T>A

1 paper

NM_007294.4

p.L1558V

c.4672C>G

2 papers

NM_007294.4

p.L1558I

c.4672C>A

1 paper

NM_007294.4

p.D1557delFs

c.4671delA

5 papers

NM_007294.4

p.D1557G

c.4670A>G

1 paper

NM_007294.4

p.D1557A

c.4670A>C

2 papers

NM_007294.4

p.L1558R

c.4673T>G

1 paper

NM_007294.4

p.L1558delFs

c.4672delG

1 paper

NM_007294.4

p.D1557fs

c.4669_4670fs

2 papers

NM_007294.4

p.D1557Y

c.4669G>T

1 paper

NM_007294.4

p.Q1556insFs

c.4668dupA

12 papers

NM_007294.4

p.D1557H

c.4669G>C