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

1–12 of 1215 variants

94 papers

NM_000553.6

p.K577M

c.1730A>T

92 papers

NM_000553.6

p.E84A

c.251A>C

76 papers

NM_000553.6

p.C1367R

c.4099T>C

73 papers

NM_000553.6

p.R369*

c.1105C>T

41 papers

NM_000553.6

p.K1046_G1047Splc

c.3139-1G>C

40 papers

NM_000553.6

p.L1074F

c.3222G>C

40 papers

NM_000553.6

p.L1074F

c.3222G>T

30 papers

NM_000553.6

p.R834C

c.2500C>T

24 papers

NM_000553.6

p.V114I

c.340G>A

19 papers

NM_000553.6

p.R637W

c.1909C>T

18 papers

NM_000553.6

p.R1406*

c.4216C>T

17 papers

NM_000553.6

p.G574R

c.1720G>A