Varaico: Literature-Extracted Genetic Variants

Gene:CTU2
Variant:p.Q416R

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
3 papers
NM_001012759.3
p.Q416R
c.1247A>G
Surrounding Variants
1 paper
NM_001012759.3
p.M417V
c.1249A>G
1 paper
NM_001318507.2
p.P491P
c.1473C>T
1 paper
NM_001012759.3
p.R427Q
c.1280G>A
1 paper
NM_001012759.3
p.A403T
c.1207G>A
1 paper
NM_001012759.3
p.A403fs
c.1207_1208fs
1 paper
NM_001012759.3
p.S402insFs
c.1206dupT
1 paper
NM_001012759.3
p.G437del1
c.1309_1310delGGG
1 paper
NM_001012759.3
p.G445R
c.1333G>C
1 paper
NM_001012759.3
p.A399V
c.1196C>T
1 paper
NM_001012759.3
p.C388Y
c.1163G>A
2 papers
NM_001012759.3
p.G385S
c.1153G>A
1 paper
NM_001012759.3
p.D383N
c.1147G>A
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