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

117 papers

NM_007294.4

p.Y856H

c.2566T>C

NM_007297.4

p.Y809H

c.2425T>C

Surrounding Variants

1 paper

NM_007294.4

p.Y856D

c.2566T>G

1 paper

NM_007294.4

p.A854_Q855delFs

c.2561_2565del5

2 papers

NM_007294.4

p.E849_Q855delFs

c.2546_2565del20

1 paper

NM_007294.4

p.Q855H

c.2565G>T

2 papers

NM_007294.4

p.Q855fs

c.2563_2564fs

1 paper

NM_007294.4

p.Q855H

c.2565G>C

14 papers

NM_007294.4

p.Y856*

c.2568T>G

10 papers

NM_007294.4

p.Y856*

c.2568T>A

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