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.R1387I

c.4160G>T

Surrounding Variants

1 paper

NM_000553.6

p.K1386N

c.4158G>C

1 paper

NM_000553.6

p.K1386N

c.4158G>T

3 papers

NM_000553.6

p.K1389R

c.4166A>G

3 papers

NM_000553.6

p.S1383insFs

c.4147_4148insA

1 paper

NM_000553.6

p.G1393V

c.4178G>T

1 paper

NM_000553.6

p.G1377S

c.4129G>A

1 paper

NM_000553.6

p.G1377fs

c.4129_4130fs

2 papers

NM_000553.6

p.G1377C

c.4129G>T

1 paper

NM_000553.6

p.G1377fs

c.4129_4130fs

1 paper

NM_000553.6

p.P1376delFs

c.4126delC

1 paper

NM_000553.6

p.R1372fs

c.4114_4115fs

1 paper

NM_000553.6

p.R1372delFs

c.4114delA