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.H400H

c.1200T>C

Surrounding Variants

1 paper

NM_000553.6

p.E401D

c.1203A>C

1 paper

NM_000553.6

p.E401D

c.1203A>T

1 paper

NM_000553.6

p.E399*

c.1195G>T

1 paper

NM_000553.6

p.Q403delFs

c.1209delA

2 papers

NM_000553.6

p.T398A

c.1192A>G

1 paper

NM_000553.6

p.I404T

c.1211T>C

1 paper

NM_000553.6

p.D396N

c.1186G>A

2 papers

NM_000553.6

p.S394L

c.1181C>T

1 paper

NM_000553.6

p.S409P

c.1225T>C

2 papers

NM_000553.6

p.Q410*

c.1228C>T

1 paper

NM_000553.6

p.C391F

c.1172G>T

1 paper

NM_000553.6

p.Q410_E411insFs

c.1230_1231insA