Varaico: Literature-Extracted Genetic Variants

WRN

1,126 papers

RefSeq Summary

This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, ...

Pfam Domains

DNA_pol_A_exo1aa 57–230UCSC3'-5' exonuclease

DEADaa 550–713UCSCDEAD/DEAH box helicase

Helicase_Caa 747–859UCSCHelicase conserved C-terminal domain

RecQ_Zn_bindaa 870–940UCSCRecQ zinc-binding

RQCaa 953–1065UCSCRQC domain

HRDCaa 1153–1219UCSCHRDC domain

Gene Aliases

HGNC Name

WRN RecQ like helicase

HGNC Alias Symbols

RECQL2; RECQ3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000553.6

p.S115A

c.343T>G

Surrounding Variants

1 paper

NM_000553.6

p.S115fs

c.343_344fs

1 paper

NM_000553.6

p.S115C

c.344C>G

1 paper

NM_000553.6

p.S116del1

c.346_347delTCC

24 papers

NM_000553.6

p.V114I

c.340G>A

2 papers

NM_000553.6

p.S115delFs

c.343delT

1 paper

NM_000553.6

p.S116delins

c.346_347delinsAA

1 paper

NM_000553.6

p.S116delFs

c.348delC

1 paper

NM_000553.6

p.S116F

c.347C>T

1 paper

NM_000553.6

p.H113R

c.338A>G

1 paper

NM_000553.6

p.M117V

c.349A>G

1 paper

NM_000553.6

p.M117fs

c.349_350fs

1 paper

NM_000553.6

p.F112L

c.336C>A