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.K635Q

c.1903A>C

Surrounding Variants

2 papers

NM_000553.6

p.G634fs

c.1900_1901fs

1 paper

NM_000553.6

p.Y636C

c.1907A>G

1 paper

NM_000553.6

p.L633Splc

c.1899-1G>C

1 paper

NM_000553.6

p.L633delFs

c.1899delA

19 papers

NM_000553.6

p.R637W

c.1909C>T

1 paper

NM_000553.6

p.L633Splc

c.1899-3C>G

1 paper

NM_000553.6

p.V639L

c.1915G>T

1 paper

NM_000553.6

p.L633Splc

c.1899-10G>T

1 paper

NM_000553.6

p.T642I

c.1925C>T

1 paper

NM_000553.6

p.P643Q

c.1928C>A

1 paper

NM_000553.6

p.E644delFs

c.1930delG

1 paper

NM_000553.6

p.Y645*

c.1935C>A