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

3 papers

NM_007294.4

p.E1735V

c.5204A>T

Surrounding Variants

4 papers

NM_007300.4

p.E1756G

c.5267A>G

NM_007294.4

p.E1735G

c.5204A>G

3 papers

NM_007294.4

p.E1735A

c.5204A>C

3 papers

NM_007300.4

p.E1756insFs

c.5266dupG

1 paper

NM_007294.4

p.E1735delFs

c.5203delC

1 paper

NM_007294.4

p.E1735*

c.5203G>T

3 papers

NM_007294.4

p.F1734insFs

c.5200dupT

1 paper

NM_007294.4

p.F1734_E1735ins4

c.5202_5203ins12

3 papers

NM_007294.4

p.E1735Q

c.5203G>C

13 papers

NM_007294.4

p.E1735K

c.5203G>A

4 papers

NM_007294.4

p.F1734delFs

c.5202delA

1 paper

NM_007294.4

p.F1734delFs

c.5201_5202delAA

4 papers

NM_007294.4

p.E1735D

c.5205A>T