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.E846Q

c.2536G>C

Surrounding Variants

4 papers

NM_007294.4

p.E846*

c.2536G>T

4 papers

NM_007294.4

p.E846K

c.2536G>A

1 paper

NM_007294.4

p.S844_I845del2

c.2530_2534del6

1 paper

NM_007294.4

p.E846G

c.2537A>G

1 paper

NM_007294.4

p.I845R

c.2534T>G

4 papers

NM_007294.4

p.I845T

c.2534T>C

1 paper

NM_007294.4

p.E846E

c.2538A>G

4 papers

NM_007294.4

p.E846D

c.2538A>C

1 paper

NM_007294.4

p.E846_M847ins4

c.2538_2539ins12

2 papers

NM_007294.4

p.M847fs

c.2539_2540fs

2 papers

NM_007294.4

p.M847L

c.2539A>T

2 papers

NM_007294.4

p.M847V

c.2539A>G