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.N90T

c.269A>C

Surrounding Variants

1 paper

NM_000553.6

p.N90D

c.268A>G

1 paper

NM_000553.6

p.Y89F

c.266A>T

1 paper

NM_000553.6

p.R91T

c.272G>C

1 paper

NM_000553.6

p.G92R

c.274G>A

1 paper

NM_000553.6

p.G92E

c.275G>A

1 paper

NM_000553.6

p.G92V

c.275G>T

1 paper

NM_000553.6

p.K93E

c.277A>G

1 paper

NM_000553.6

p.K93N

c.279A>T

2 papers

NM_000553.6

p.L94P

c.281T>C

1 paper

NM_000553.6

p.W85*

c.255G>A

1 paper

NM_000553.6

p.W85S

c.254G>C

1 paper

NM_000553.6

p.K96del1

c.286_288delAAA