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

40 papers

NM_000553.6

p.L1074F

c.3222G>T

Surrounding Variants

40 papers

NM_000553.6

p.L1074F

c.3222G>C

1 paper

NM_000553.6

p.L1074S

c.3221T>C

1 paper

NM_000553.6

p.P1071S

c.3211C>T

1 paper

NM_000553.6

p.S1078I

c.3233G>T

2 papers

NM_000553.6

p.S1078Splc

c.3233+1G>C

1 paper

NM_000553.6

p.S1078Splc

c.3233+1G>T

1 paper

NM_000553.6

p.E1068*

c.3202G>T

2 papers

NM_000553.6

p.E1067K

c.3199G>A

2 papers

NM_000553.6

p.Q1064*

c.3190C>T

1 paper

NM_000553.6

p.L1061_L1063delFs

c.3183_3187del5

1 paper

NM_000553.6

p.S1060_I1062delFs

c.3180_3184del5

1 paper

NM_000553.6

p.S1058C

c.3173C>G