Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.R8*

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
7 papers
NM_017646.6
p.R8*
c.22C>T
Surrounding Variants
1 paper
NM_017646.6
p.R8G
c.22C>G
1 paper
NM_017646.6
p.R8P
c.23G>C
1 paper
NM_017646.6
p.V4L
c.10G>T
1 paper
NM_017646.6
p.V4L
c.10G>C
1 paper
NM_017646.6
p.S3S
c.9C>T
1 paper
NM_017646.6
p.A2insFs
c.4_5insT
1 paper
NM_017646.6
p.M1I
c.3G>T
1 paper
NM_017646.6
p.M1I
c.3G>C
1 paper
NM_017646.6
p.M1I
c.3G>A
1 paper
NM_017646.6
p.G15G
c.45G>A
1 paper
NM_017646.6
p.R17S
c.51G>T
1 paper
NM_017646.6
p.R17S
c.51G>C
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