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

9 papers

NM_007294.4

p.N16_P25delFs

c.46_74del29

Surrounding Variants

7 papers

NM_007294.4

p.P25P

c.75C>T

2 papers

NM_007294.4

p.P25P

c.75C>G

1 paper

NM_007294.4

p.P25fs

c.73_74fs

3 papers

NM_007294.4

p.P25P

c.75C>A

13 papers

NM_007294.4

p.P25L

c.74C>T

5 papers

NM_007294.4

p.P25R

c.74C>G

12 papers

NM_007294.4

p.C24_P25insFs

c.70_73dup4

4 papers

NM_007294.4

p.P25H

c.74C>A

1 paper

NM_007294.4

p.I26fs

c.76_77fs

4 papers

NM_007294.4

p.I26F

c.76A>T

11 papers

NM_007294.4

p.I26V

c.76A>G

4 papers

NM_007294.4

p.I26L

c.76A>C