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.E84Q

c.250G>C

Surrounding Variants

1 paper

NM_000553.6

p.E84*

c.250G>T

92 papers

NM_000553.6

p.E84A

c.251A>C

1 paper

NM_000553.6

p.E84delFs

c.252delG

1 paper

NM_000553.6

p.M83I

c.249G>T

1 paper

NM_000553.6

p.W85S

c.254G>C

8 papers

NM_000553.6

p.D82A

c.245A>C

1 paper

NM_000553.6

p.W85*

c.255G>A

1 paper

NM_000553.6

p.F81L

c.243T>A

1 paper

NM_000553.6

p.F81L

c.243T>G

1 paper

NM_000553.6

p.F81L

c.241T>C

1 paper

NM_000553.6

p.Y89F

c.266A>T

1 paper

NM_000553.6

p.V78E

c.233T>A