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.N329D

c.985A>G

Surrounding Variants

1 paper

NM_007294.4

p.N329Y

c.985A>T

1 paper

NM_007294.4

p.N329H

c.985A>C

1 paper

NM_007294.4

p.N329_D330insA

c.985_989ins3

2 papers

NM_007294.4

p.C328_N329insFs

c.984_985insC

12 papers

NM_007294.4

p.C328fs

c.982_983fs

47 papers

NM_007294.4

p.C328*

c.984T>A

1 paper

NM_007294.4

p.C328delFs

c.983delC

1 paper

NM_007294.4

p.N329fs

c.985_986fs

1 paper

NM_007294.4

p.N329_D330insFs

c.987_988insAA

2 papers

NM_007294.4

p.N329N

c.987T>C

2 papers

NM_007294.4

p.N329delFs

c.986delT

1 paper

NM_007294.4

p.C328F

c.983G>T