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.K558fs

c.1672_1673fs

Surrounding Variants

1 paper

NM_007294.4

p.K558*

c.1672A>T

1 paper

NM_007294.4

p.K558E

c.1672A>G

1 paper

NM_007294.4

p.K558Q

c.1672A>C

1 paper

NM_007294.4

p.K558I

c.1673A>T

1 paper

NM_007294.4

p.T557delFs

c.1670delG

1 paper

NM_007294.4

p.T557R

c.1670C>G

5 papers

NM_007294.4

p.K556insFs

c.1667dupA

1 paper

NM_007294.4

p.T557K

c.1670C>A

1 paper

NM_007294.4

p.T557Fs

c.1669_1670delinsTFs

2 papers

NM_007294.4

p.K556delFs

c.1667delT

2 papers

NM_007294.4

p.K558fs

c.1672_1673fs

5 papers

NM_007294.4

p.T557_K558delFs

c.1670_1673del4