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.L1786M

c.5356C>A

Surrounding Variants

5 papers

NM_007294.4

p.L1786V

c.5356C>G

2 papers

NM_007294.4

p.Q1785insFs

c.5355dupG

3 papers

NM_007294.4

p.L1786R

c.5357T>G

33 papers

NM_007294.4

p.L1786P

c.5357T>C

2 papers

NM_007294.4

p.L1786Q

c.5357T>A

3 papers

NM_007294.4

p.Q1779_Q1785del7

c.5335_5354del21

16 papers

NM_007294.4

p.Q1785H

c.5355G>T

1 paper

NM_007294.4

p.Q1785_L1786insFs

c.5355_5356insT

1 paper

NM_007294.4

p.Q1785insFs

c.5353_5354dupCA

15 papers

NM_007294.4

p.Q1785H

c.5355G>C

1 paper

NM_007294.4

p.L1786_C1787insFs

c.5358_5359insC

2 papers

NM_007294.4

p.Q1785L

c.5354A>T