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.C109S

c.326G>C

Surrounding Variants

4 papers

NM_000553.6

p.C109Y

c.326G>A

1 paper

NM_000553.6

p.C109S

c.325T>A

3 papers

NM_000553.6

p.C109W

c.327T>G

1 paper

NM_000553.6

p.K108Q

c.322A>C

1 paper

NM_000553.6

p.F112L

c.334T>C

1 paper

NM_000553.6

p.E106V

c.317A>T

1 paper

NM_000553.6

p.F112L

c.336C>A

1 paper

NM_000553.6

p.F112L

c.336C>G

2 papers

NM_000553.6

p.E106K

c.316G>A

1 paper

NM_000553.6

p.H113R

c.338A>G

24 papers

NM_000553.6

p.V114I

c.340G>A

2 papers

NM_000553.6

p.S115delFs

c.343delT