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.E379K

c.1135G>A

Surrounding Variants

1 paper

NM_000553.6

p.E379Q

c.1135G>C

1 paper

NM_000553.6

p.E379E

c.1137A>G

2 papers

NM_000553.6

p.V378delFs

c.1134delA

2 papers

NM_000553.6

p.V378I

c.1132G>A

2 papers

NM_000553.6

p.K382R

c.1145A>G

3 papers

NM_000553.6

p.E375A

c.1124A>C

10 papers

NM_000553.6

p.L383F

c.1149G>C

11 papers

NM_000553.6

p.L383F

c.1149G>T

1 paper

NM_000553.6

p.D372delFs

c.1116delT

1 paper

NM_000553.6

p.E385E

c.1155G>A

3 papers

NM_000553.6

p.D372fs

c.1114_1115fs

1 paper

NM_000553.6

p.D372delFs

c.1115delA