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

5 papers

NM_007300.4

p.C1789delFs

c.5367delG

NM_007294.4

p.C1768delFs

c.5304delG

Surrounding Variants

1 paper

NM_007294.4

p.Y1769D

c.5305T>G

1 paper

NM_007294.4

p.Y1769N

c.5305T>A

3 papers

NM_007294.4

p.Y1769fs

c.5305_5306fs

1 paper

NM_007294.4

p.C1768C

c.5304C>T

1 paper

NM_007294.4

p.C1768W

c.5304C>G

1 paper

NM_007294.4

p.C1768delFs

c.5303delC

1 paper

NM_007294.4

p.Y1769F

c.5306A>T

19 papers

NM_007294.4

p.Y1769C

c.5306A>G

1 paper

NM_007294.4

p.Y1769S

c.5306A>C

1 paper

NM_007300.4

p.Y1790fs

c.5368_5369fs

1 paper

NM_007294.4

p.Y1769insFs

c.5306_5307insA

5 papers

NM_007294.4

p.Y1769*

c.5307T>G