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.S862S

c.2586T>C

Surrounding Variants

4 papers

NM_000553.6

p.Q861*

c.2581C>T

2 papers

NM_000553.6

p.C864W

c.2592T>G

1 paper

NM_000553.6

p.R857_D858insG

c.2569_2573ins3

1 paper

NM_000553.6

p.G856C

c.2566G>T

1 paper

NM_000553.6

p.P870S

c.2608C>T

1 paper

NM_000553.6

p.G853G

c.2559T>A

1 paper

NM_000553.6

p.I852L

c.2554A>C

1 paper

NM_000553.6

p.I852F

c.2554A>T

1 paper

NM_000553.6

p.N874_L875insA

c.2620_2624ins3

1 paper

NM_000553.6

p.Q850_E851insA

c.2548_2552ins3

2 papers

NM_000553.6

p.Q850*

c.2548C>T

1 paper

NM_000553.6

p.Y848C

c.2543A>G