Varaico: Literature-Extracted Genetic Variants

Gene:ISG20L2
Variant:p.V340V

ISG20L2

35 papers

RefSeq Summary

This gene encodes a 3'-5' exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014].

Pfam Domains

RNase_Taa 180–335UCSCExonuclease

Gene Aliases

HGNC Name

interferon stimulated exonuclease gene 20 like 2

HGNC Alias Symbol

FLJ12671

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001370150.2
p.V340V
c.1020C>T
Surrounding Variants
1 paper
NM_001370150.2
p.P350A
c.1048C>G
1 paper
NM_001370150.2
p.P351insFs
c.1052dupC
1 paper
NM_001370150.2
p.P351fs
c.1051_1052fs
1 paper
NM_001370150.2
p.D327A
c.980A>C
1 paper
NM_001370150.2
p.V325M
c.973G>A
1 paper
NM_001370150.2
p.G321R
c.961G>C
1 paper
NM_001370150.2
p.G321R
c.961G>A
3 papers
NM_001370150.2
p.L289fs
c.865_866fs
1 paper
NM_001370150.2
p.L289delFs
c.866delA
1 paper
NM_001370150.2
p.L289delFs
c.865delG
1 paper
NM_001370150.2
p.L289fs
c.865_866fs
1 paper
NM_001370150.2
p.P288R
c.863C>G
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