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.R389G

c.1165A>G

Surrounding Variants

3 papers

NM_000553.6

p.R389fs

c.1165_1166fs

5 papers

NM_000553.6

p.R389fs

c.1165_1166fs

1 paper

NM_000553.6

p.R389K

c.1166G>A

1 paper

NM_000553.6

p.R389I

c.1166G>T

1 paper

NM_000553.6

p.E388K

c.1162G>A

7 papers

NM_000553.6

p.E388delFs

c.1163delA

13 papers

NM_000553.6

p.M387I

c.1161G>A

12 papers

NM_000553.6

p.M387I

c.1161G>C

12 papers

NM_000553.6

p.M387I

c.1161G>T

1 paper

NM_000553.6

p.M387_E388Fs

c.1161_1163delinsAGFs

2 papers

NM_000553.6

p.M387V

c.1159A>G

1 paper

NM_000553.6

p.C391F

c.1172G>T