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

2 papers

NM_007294.4

p.Q310_P311delFs

c.929_933del5

Surrounding Variants

2 papers

NM_007294.4

p.G312C

c.934G>T

2 papers

NM_007294.4

p.G312R

c.934G>C

4 papers

NM_007294.4

p.G312S

c.934G>A

2 papers

NM_007294.4

p.P311delFs

c.933delA

2 papers

NM_007294.4

p.G312fs

c.934_935fs

2 papers

NM_007294.4

p.P311insFs

c.932_933insC

5 papers

NM_007294.4

p.G312A

c.935G>C

1 paper

NM_007294.4

p.A302_P311del10

c.904_932del30

8 papers

NM_007294.4

p.G312G

c.936C>T

6 papers

NM_007294.4

p.P311L

c.932C>T

1 paper

NM_007294.4

p.P311R

c.932C>G

2 papers

NM_007294.4

p.P311insFs

c.932_933insT