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

76 papers

NM_000553.6

p.C1367R

c.4099T>C

Surrounding Variants

2 papers

NM_000553.6

p.N1370delFs

c.4109delA

4 papers

NM_000553.6

p.N1370fs

c.4108_4109fs

1 paper

NM_000553.6

p.R1372delFs

c.4114delA

1 paper

NM_000553.6

p.R1372fs

c.4114_4115fs

1 paper

NM_000553.6

p.G1362R

c.4084G>A

1 paper

NM_000553.6

p.G1362R

c.4084G>C

6 papers

NM_000553.6

p.S1361S

c.4083C>T

1 paper

NM_000553.6

p.P1359S

c.4075C>T

1 paper

NM_000553.6

p.P1376delFs

c.4126delC

1 paper

NM_000553.6

p.G1377S

c.4129G>A

1 paper

NM_000553.6

p.G1377fs

c.4129_4130fs

2 papers

NM_000553.6

p.G1377C

c.4129G>T