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.T573T

c.1719T>G

Surrounding Variants

1 paper

NM_000553.6

p.T573I

c.1718C>T

17 papers

NM_000553.6

p.G574R

c.1720G>A

16 papers

NM_000553.6

p.G574R

c.1720G>C

12 papers

NM_000553.6

p.T573A

c.1717A>G

4 papers

NM_000553.6

p.G574Splc

c.1720+1G>A

1 paper

NM_000553.6

p.G574V

c.1721G>T

1 paper

NM_000553.6

p.G574Splc

c.1720+5G>A

1 paper

NM_000553.6

p.V570L

c.1708G>C

1 paper

NM_000553.6

p.V568V

c.1704T>A

1 paper

NM_000553.6

p.D566N

c.1696G>A

1 paper

NM_000553.6

p.G574Splc

c.1720+24T>A

1 paper

NM_000553.6

p.R565*

c.1693A>T