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.G840G

c.2520T>C

Surrounding Variants

1 paper

NM_000553.6

p.A841V

c.2522C>T

1 paper

NM_000553.6

p.G840S

c.2518G>A

1 paper

NM_000553.6

p.Y839*

c.2517C>A

1 paper

NM_000553.6

p.Y839*

c.2517C>G

1 paper

NM_000553.6

p.Y839Y

c.2517C>T

1 paper

NM_000553.6

p.Y839H

c.2515T>C

2 papers

NM_000553.6

p.K843N

c.2529G>C

2 papers

NM_000553.6

p.K843N

c.2529G>T

1 paper

NM_000553.6

p.D844_M845ins4

c.2530_2534ins12

1 paper

NM_000553.6

p.I837F

c.2509A>T

1 paper

NM_000553.6

p.V836A

c.2507T>C

1 paper

NM_000553.6

p.Q835*

c.2503C>T