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.V338V

c.1014T>G

Surrounding Variants

1 paper

NM_000553.6

p.H341D

c.1021C>G

1 paper

NM_000553.6

p.V342I

c.1024G>A

1 paper

NM_000553.6

p.E335Fs

c.1003delinsGAFs

2 papers

NM_000553.6

p.E343K

c.1027G>A

1 paper

NM_000553.6

p.E343Q

c.1027G>C

1 paper

NM_000553.6

p.E343*

c.1027G>T

5 papers

NM_000553.6

p.Q332L

c.995A>T

2 papers

NM_000553.6

p.T346R

c.1037C>G

1 paper

NM_000553.6

p.W347*

c.1040G>A

1 paper

NM_000553.6

p.W347*

c.1041G>A

2 papers

NM_000553.6

p.W347C

c.1041G>C

2 papers

NM_000553.6

p.W347C

c.1041G>T