Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.R323Q

TRIT1

107 papers

RefSeq Summary

This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is importan...

Pfam Domains

IPPTaa 58–332UCSCIPP transferase

Gene Aliases

HGNC Name

tRNA isopentenyltransferase 1

HGNC Alias Symbols

FLJ20061; IPT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_017646.6
p.R323Q
c.968G>A
Surrounding Variants
1 paper
NM_017646.6
p.R323L
c.968G>T
3 papers
NM_017646.6
p.R323W
c.967C>T
1 paper
NM_017646.6
p.K324E
c.970A>G
6 papers
NM_017646.6
p.R327*
c.979C>T
1 paper
NM_017646.6
p.E312_K315del4
c.934_944del12
1 paper
NM_017646.6
p.R332H
c.995G>A
2 papers
NM_017646.6
p.G310Splc
c.928+2T>C
NM_001312692.1
p.G228Splc
c.682+2T>C
1 paper
NM_017646.6
p.E301G
c.902A>G
1 paper
NM_017646.6
p.E301Q
c.901G>C
2 papers
NM_017646.6
p.T294_E295delFs
c.882_883delCA
2 papers
NM_017646.6
p.E295fs
c.883_884fs
3 papers
NM_017646.6
p.K286E
c.856A>G
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