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

41 papers

NM_000553.6

p.K1046_G1047Splc

c.3139-1G>C

Surrounding Variants

1 paper

NM_000553.6

p.G1047R

c.3139G>C

2 papers

NM_000553.6

p.G1047fs

c.3139_3140fs

1 paper

NM_000553.6

p.G1047fs

c.3139_3140fs

1 paper

NM_000553.6

p.N1055S

c.3164A>G

2 papers

NM_000553.6

p.S1058A

c.3172T>G

1 paper

NM_000553.6

p.S1058C

c.3173C>G

1 paper

NM_000553.6

p.S1060_I1062delFs

c.3180_3184del5

1 paper

NM_000553.6

p.L1061_L1063delFs

c.3183_3187del5

2 papers

NM_000553.6

p.Q1064*

c.3190C>T

2 papers

NM_000553.6

p.E1067K

c.3199G>A

1 paper

NM_000553.6

p.E1068*

c.3202G>T

1 paper

NM_000553.6

p.P1071S

c.3211C>T