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.N924H

c.2770A>C

Surrounding Variants

4 papers

NM_007294.4

p.N924Y

c.2770A>T

2 papers

NM_007294.4

p.N924D

c.2770A>G

1 paper

NM_007294.4

p.V923delFs

c.2769delA

5 papers

NM_007294.4

p.V923fs

c.2767_2768fs

1 paper

NM_007294.4

p.N924I

c.2771A>T

2 papers

NM_007294.4

p.N924T

c.2771A>C

8 papers

NM_007294.4

p.V923_N924delFs

c.2767_2770del4

3 papers

NM_007294.4

p.T922_V923del2

c.2764_2768del6

1 paper

NM_007294.4

p.V923insFs

c.2767_2768ins4

1 paper

NM_007294.4

p.V923A

c.2768T>C

9 papers

NM_007294.4

p.T922_V923delFs

c.2764_2767del4

2 papers

NM_007294.4

p.Q921_N924delFs

c.2761_2771del11