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.K56_G57insGCC

c.166_170ins9

Surrounding Variants

7 papers

NM_007294.4

p.K56delins

c.166delinsT

8 papers

NM_007294.4

p.K56E

c.166A>G

5 papers

NM_007294.4

p.K56Q

c.166A>C

1 paper

NM_007294.4

p.K56insFs

c.166_167ins8

1 paper

NM_007294.4

p.K56insFs

c.166_167insGA

1 paper

NM_007294.4

p.K55delFs

c.165delC

1 paper

NM_007294.4

p.Q54_K55delFs

c.162_165del4

7 papers

NM_007294.4

p.K55N

c.165G>T

7 papers

NM_007294.4

p.K55N

c.165G>C

10 papers

NM_007294.4

p.K55K

c.165G>A

5 papers

NM_007294.4

p.K56I

c.167A>T

14 papers

NM_007294.4

p.K56R

c.167A>G