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.Q855K

c.2563C>A

Surrounding Variants

2 papers

NM_007294.4

p.Q855fs

c.2563_2564fs

26 papers

NM_007294.4

p.Q855*

c.2563C>T

1 paper

NM_007294.4

p.Q855insFs

c.2563_2564insGC

1 paper

NM_007294.4

p.Q855_Y856ins4

c.2563_2567ins12

10 papers

NM_007294.4

p.A854insFs

c.2560_2561dupGC

3 papers

NM_007294.4

p.Q855L

c.2564A>T

2 papers

NM_007294.4

p.Q855R

c.2564A>G

12 papers

NM_007294.4

p.Q855P

c.2564A>C

1 paper

NM_007294.4

p.Q855insFs

c.2564_2565ins5

1 paper

NM_007294.4

p.A854delFs

c.2561_2562delAG

1 paper

NM_007294.4

p.Q855H

c.2565G>T

2 papers

NM_007294.4

p.Q855fs

c.2563_2564fs