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.I26fs

c.76_77fs

Surrounding Variants

4 papers

NM_007294.4

p.I26F

c.76A>T

11 papers

NM_007294.4

p.I26V

c.76A>G

4 papers

NM_007294.4

p.I26L

c.76A>C

1 paper

NM_007294.4

p.I26insFs

c.76_77insC

1 paper

NM_007294.4

p.P25delFs

c.75delG

1 paper

NM_007294.4

p.C24_P25delFs

c.71_75del5

2 papers

NM_007294.4

p.E23_P25del0

c.67_75del9

3 papers

NM_007294.4

p.I26insFs

c.76_77insA

7 papers

NM_007294.4

p.I26S

c.77T>G

17 papers

NM_007294.4

p.I26T

c.77T>C

14 papers

NM_007294.4

p.I26N

c.77T>A

2 papers

NM_007294.4

p.I26delFs

c.76delT