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.K1424N

c.4272A>T

Surrounding Variants

1 paper

NM_000553.6

p.K1424N

c.4272A>C

1 paper

NM_000553.6

p.T1425M

c.4274C>T

1 paper

NM_000553.6

p.R1427K

c.4280G>A

1 paper

NM_000553.6

p.R1427T

c.4280G>C

1 paper

NM_000553.6

p.K1420N

c.4260A>C

1 paper

NM_000553.6

p.K1420N

c.4260A>T

2 papers

NM_000553.6

p.L1430V

c.4288C>G

1 paper

NM_000553.6

p.S1418G

c.4252A>G

5 papers

NM_000553.6

p.S1415insFs

c.4245dupT

2 papers

NM_000553.6

p.S1415fs

c.4243_4244fs

1 paper

NM_000553.6

p.G1414R

c.4240G>A

1 paper

NM_000553.6

p.G1414R

c.4240G>C