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

48 papers

NM_007294.4

p.I1275V

c.3823A>G

Surrounding Variants

1 paper

NM_007294.4

p.I1275L

c.3823A>T

1 paper

NM_007294.4

p.I1275fs

c.3823_3824fs

2 papers

NM_007294.4

p.I1275insFs

c.3823dupA

1 paper

NM_007294.4

p.I1275insFs

c.3823_3824ins8

1 paper

NM_007294.4

p.I1275ins3

c.3823_3824ins9

1 paper

NM_007294.4

p.I1275T

c.3824T>C

1 paper

NM_007294.4

p.I1275delFs

c.3823delT

9 papers

NM_007294.4

p.Q1273_I1275delFs

c.3819_3823del5

1 paper

NM_007294.4

p.V1274V

c.3822A>C

4 papers

NM_007294.4

p.V1274fs

c.3820_3821fs

8 papers

NM_007294.4

p.V1274insFs

c.3820dupG

2 papers

NM_007294.4

p.V1274delFs

c.3820delC