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

18 papers

NM_000553.6

p.R1406*

c.4216C>T

Surrounding Variants

1 paper

NM_000553.6

p.K1404E

c.4210A>G

1 paper

NM_000553.6

p.P1408H

c.4223C>A

1 paper

NM_000553.6

p.R1403I

c.4208G>T

1 paper

NM_000553.6

p.W1410G

c.4228T>G

2 papers

NM_000553.6

p.W1410L

c.4229G>T

1 paper

NM_000553.6

p.A1412P

c.4234G>C

2 papers

NM_000553.6

p.K1413R

c.4238A>G

2 papers

NM_000553.6

p.T1398I

c.4193C>T

1 paper

NM_000553.6

p.G1414R

c.4240G>A

1 paper

NM_000553.6

p.G1414R

c.4240G>C

1 paper

NM_000553.6

p.E1397_T1398Splc

c.4192-1G>A

2 papers

NM_000553.6

p.S1415fs

c.4243_4244fs