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.L292L

c.876A>T

Surrounding Variants

1 paper

NM_000553.6

p.L292insFs

c.874_875insA

1 paper

NM_000553.6

p.E290fs

c.868_869fs

1 paper

NM_000553.6

p.E290_L295del0

c.868_885del18

1 paper

NM_000553.6

p.R297W

c.889A>T

1 paper

NM_000553.6

p.D287D

c.861T>C

2 papers

NM_000553.6

p.D287fs

c.859_860fs

2 papers

NM_000553.6

p.M298I

c.894G>T

1 paper

NM_000553.6

p.K286insFs

c.857_858insG

1 paper

NM_000553.6

p.I299fs

c.895_896fs

1 paper

NM_000553.6

p.I299insFs

c.896dupT

2 papers

NM_000553.6

p.K286delFs

c.858delG

1 paper

NM_000553.6

p.K286_I288del3

c.856_863del9