Varaico: Literature-Extracted Genetic Variants

Gene:CTU2
Variant:p.D114N

CTU2

94 papers

RefSeq Summary

This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble...

Pfam Domains

CTU2aa 341–468UCSCCytoplasmic tRNA 2-thiolation protein 2

Gene Aliases

HGNC Name

cytosolic thiouridylase subunit 2

HGNC Previous Symbol

C16orf84

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012759.3
p.D114N
c.340G>A
Surrounding Variants
1 paper
NM_001012759.3
p.D114H
c.340G>C
1 paper
NM_001012759.3
p.I111N
c.332T>A
3 papers
NM_001012759.3
p.I111T
c.332T>C
1 paper
NM_001012759.3
p.V107A
c.320T>C
1 paper
NM_001012759.3
p.S100C
c.299C>G
1 paper
NM_001012759.3
p.S97T
c.290G>C
1 paper
NM_001318507.2
p.E157K
c.469G>A
1 paper
NM_001318507.2
p.V164M
c.490G>A
1 paper
NM_001012759.3
p.E115A
c.344A>C
1 paper
NM_001012759.3
p.S122delFs
c.366delC
1 paper
NM_001012759.3
p.K134K
c.402G>A
1 paper
NM_001012759.3
p.L137L
c.411G>A
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