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.K505fs

c.1513_1514fs

Surrounding Variants

1 paper

NM_007294.4

p.K505K

c.1515A>G

2 papers

NM_007294.4

p.R506fs

c.1516_1517fs

6 papers

NM_007294.4

p.K505I

c.1514A>T

1 paper

NM_007294.4

p.R506W

c.1516A>T

3 papers

NM_007294.4

p.R506G

c.1516A>G

3 papers

NM_007294.4

p.K505R

c.1514A>G

1 paper

NM_007294.4

p.K505_R506Fs

c.1515_1516delinsTFs

1 paper

NM_007294.4

p.K505delins

c.1513_1514delinsGC

2 papers

NM_007294.4

p.K505insFs

c.1513dupA

3 papers

NM_007294.4

p.R506K

c.1517G>A

6 papers

NM_007297.4

p.K458delFs

c.1374delT

NM_007294.4

p.R506delFs

c.1516delT

1 paper

NM_007294.4

p.R506delins

c.1516_1517delinsGC