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.D361Y

c.1081G>T

Surrounding Variants

2 papers

NM_000553.6

p.V362I

c.1084G>A

1 paper

NM_000553.6

p.D358G

c.1073A>G

1 paper

NM_000553.6

p.G364R

c.1090G>A

1 paper

NM_000553.6

p.K356R

c.1067A>G

1 paper

NM_000553.6

p.K366T

c.1097A>C

1 paper

NM_000553.6

p.K366R

c.1097A>G

1 paper

NM_000553.6

p.A355fs

c.1063_1064fs

1 paper

NM_000553.6

p.V367delFs

c.1100delT

1 paper

NM_000553.6

p.L354F

c.1062A>C

1 paper

NM_000553.6

p.L354F

c.1062A>T

1 paper

NM_000553.6

p.H353Q

c.1059T>A

1 paper

NM_000553.6

p.H353Q

c.1059T>G