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.G574G

c.1722A>G

Surrounding Variants

1 paper

NM_000553.6

p.G574V

c.1721G>T

1 paper

NM_000553.6

p.Y575C

c.1724A>G

1 paper

NM_000553.6

p.K577T

c.1730A>C

1 paper

NM_000553.6

p.K577R

c.1730A>G

94 papers

NM_000553.6

p.K577M

c.1730A>T

1 paper

NM_000553.6

p.F581F

c.1743C>T

1 paper

NM_000553.6

p.Q582K

c.1744C>A

1 paper

NM_000553.6

p.P584S

c.1750C>T

1 paper

NM_000553.6

p.P585delFs

c.1753delC

1 paper

NM_000553.6

p.P585fs

c.1753_1754fs

1 paper

NM_000553.6

p.P585S

c.1753C>T

1 paper

NM_000553.6

p.P585H

c.1754C>A