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.S864fs

c.2590_2591fs

Surrounding Variants

2 papers

NM_007294.4

p.S864S

c.2592A>G

9 papers

NM_007294.4

p.S864L

c.2591C>T

9 papers

NM_007294.4

p.S864*

c.2591C>G

4 papers

NM_007294.4

p.V863insFs

c.2588dupT

7 papers

NM_007294.4

p.S864*

c.2591C>A

3 papers

NM_007294.4

p.V863delFs

c.2589delA

1 paper

NM_007294.4

p.K862_S864delFs

c.2584_2590del7

1 paper

NM_007294.4

p.L857_S864delFs

c.2571_2590del20

2 papers

NM_007294.4

p.K865*

c.2593A>T

1 paper

NM_007294.4

p.K865E

c.2593A>G

1 paper

NM_007294.4

p.K865Q

c.2593A>C

1 paper

NM_007294.4

p.F861_S864del4

c.2581_2591del12