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

2 papers

NM_007294.4

p.K351R

c.1052A>G

Surrounding Variants

1 paper

NM_007294.4

p.R350_K351delins

c.1050_1052delinsTCT

1 paper

NM_007294.4

p.L347_K351delFs

c.1039_1051del13

3 papers

NM_007294.4

p.K351N

c.1053A>T

1 paper

NM_007294.4

p.K351*

c.1051A>T

2 papers

NM_007294.4

p.K351E

c.1051A>G

2 papers

NM_007294.4

p.K351N

c.1053A>C

1 paper

NM_007294.4

p.K351fs

c.1051_1052fs

1 paper

NM_007294.4

p.R350_K351Fs

c.1050_1051delinsTCTFs

2 papers

NM_007294.4

p.R350delFs

c.1049_1050delTC

1 paper

NM_007294.4

p.E349_R350del2

c.1045_1049del6

35 papers

NM_007294.4

p.E352*

c.1054G>T

1 paper

NM_007294.4

p.E352insFs

c.1054_1055insT