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.R163insFs

c.488_489insTA

Surrounding Variants

2 papers

NM_007294.4

p.R163I

c.488G>T

7 papers

NM_007294.4

p.R163T

c.488G>C

1 paper

NM_007294.4

p.R163K

c.488G>A

1 paper

NM_007297.4

p.R116delFs

c.346delT

1 paper

NM_007294.4

p.T161_V162del2

c.481_485del6

1 paper

NM_007294.4

p.L156_R163del0

c.467_487del21

4 papers

NM_007294.4

p.R163S

c.489A>T

2 papers

NM_007294.4

p.R163G

c.487A>G

1 paper

NM_007294.4

p.R163R

c.489A>G

3 papers

NM_007294.4

p.R163S

c.489A>C

1 paper

NM_007294.4

p.R163insFs

c.488dupG

1 paper

NM_007294.4

p.V162_R163insFs

c.486_487insG