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.Q1857*

c.5569C>T

Surrounding Variants

2 papers

NM_007294.4

p.Q1857fs

c.5569_5570fs

1 paper

NM_007294.4

p.Y1853_Q1857Fs

c.5559_5569delinsAFs

2 papers

NM_007294.4

p.P1856delins

c.5566_5568delinsTGA

3 papers

NM_007294.4

p.Q1857delFs

c.5569delG

4 papers

NM_007294.4

p.Y1853_Q1857delFs

c.5557_5569del13

3 papers

NM_007294.4

p.Q1857H

c.5571G>T

3 papers

NM_007294.4

p.Q1857fs

c.5569_5570fs

3 papers

NM_007294.4

p.Q1857H

c.5571G>C

1 paper

NM_007294.4

p.P1856L

c.5567C>T

33 papers

NM_007294.4

p.P1856S

c.5566C>T

1 paper

NM_007294.4

p.P1856A

c.5566C>G

4 papers

NM_007294.4

p.P1856T

c.5566C>A