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.E321A

c.962A>C

Surrounding Variants

1 paper

NM_000553.6

p.E321*

c.961G>T

1 paper

NM_000553.6

p.D322A

c.965A>C

1 paper

NM_000553.6

p.S323A

c.967T>G

1 paper

NM_000553.6

p.S323*

c.968C>A

1 paper

NM_000553.6

p.S323*

c.968C>G

1 paper

NM_000553.6

p.S323L

c.968C>T

1 paper

NM_000553.6

p.S319A

c.955T>G

13 papers

NM_000553.6

p.T324A

c.970A>G

1 paper

NM_000553.6

p.L318*

c.953T>A

1 paper

NM_000553.6

p.T325I

c.974C>T

3 papers

NM_000553.6

p.G327*

c.979G>T

1 paper

NM_000553.6

p.L315_N316delFs

c.944_948del5