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.Q654*

c.1960C>T

Surrounding Variants

1 paper

NM_000553.6

p.Q654delFs

c.1961delA

1 paper

NM_000553.6

p.Q654L

c.1961A>T

1 paper

NM_000553.6

p.L653V

c.1957C>G

1 paper

NM_000553.6

p.G651R

c.1951G>C

1 paper

NM_000553.6

p.M650R

c.1949T>G

1 paper

NM_000553.6

p.M650V

c.1948A>G

2 papers

NM_000553.6

p.I660V

c.1978A>G

2 papers

NM_000553.6

p.S647L

c.1940C>T

1 paper

NM_000553.6

p.G661S

c.1981G>A

1 paper

NM_000553.6

p.Y645*

c.1935C>A

1 paper

NM_000553.6

p.Y645*

c.1935C>G

1 paper

NM_000553.6

p.E644delFs

c.1930delG