Varaico: Literature-Extracted Genetic Variants

Gene:CTU2
Variant:p.A348V

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.A348V
c.1043C>T
Surrounding Variants
1 paper
NM_001012759.3
p.P358R
c.1073C>G
2 papers
NM_001012759.3
p.R366delFs
c.1096_1097delAG
2 papers
NM_001012759.3
p.R366delFs
c.1097delG
1 paper
NM_001012759.3
p.R366insFs
c.1097_1098ins4
1 paper
NM_001012759.3
p.R376W
c.1126C>T
1 paper
NM_001012759.3
p.D383N
c.1147G>A
2 papers
NM_001012759.3
p.G385S
c.1153G>A
1 paper
NM_001012759.3
p.C388Y
c.1163G>A
1 paper
NM_001012759.3
p.A399V
c.1196C>T
2 papers
NM_001012759.3
p.V332I
c.994G>A
1 paper
NM_001012759.3
p.P330L
c.989C>T
1 paper
NM_001012759.3
p.F328L
c.984C>A
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