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

7 papers

NM_007294.4

p.E300D

c.900A>T

Surrounding Variants

7 papers

NM_007294.4

p.E300D

c.900A>C

1 paper

NM_007294.4

p.K301fs

c.901_902fs

1 paper

NM_007294.4

p.K301*

c.901A>T

2 papers

NM_007294.4

p.K301E

c.901A>G

3 papers

NM_007294.4

p.K301Q

c.901A>C

1 paper

NM_007294.4

p.E300insFs

c.899_900insGT

1 paper

NM_007294.4

p.M297_E300Fs

c.891_899delinsGATACTTCAGFs

4 papers

NM_007294.4

p.E300*

c.898G>T

4 papers

NM_007294.4

p.E300K

c.898G>A

1 paper

NM_007294.4

p.N298_V299del2

c.892_896del6

1 paper

NM_007294.4

p.K301M

c.902A>T

5 papers

NM_007294.4

p.K301R

c.902A>G