Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.P116T

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
1 paper
NM_017646.6
p.P116T
c.346C>A
Surrounding Variants
1 paper
NM_017646.6
p.P116fs
c.346_347fs
1 paper
NM_017646.6
p.I115delFs
c.345delA
3 papers
NM_017646.6
p.R112fs
c.334_335fs
5 papers
NM_017646.6
p.R112delFs
c.334delG
2 papers
NM_017646.6
p.R112*
c.334C>T
3 papers
NM_017646.6
p.R112fs
c.334_335fs
1 paper
NM_017646.6
p.A111fs
c.331_332fs
3 papers
NM_017646.6
p.I109T
c.326T>C
1 paper
NM_017646.6
p.K132*
c.394A>T
1 paper
NM_017646.6
p.Q140delFs
c.418delG
1 paper
NM_017646.6
p.Q140fs
c.418_419fs
4 papers
NM_017646.6
p.K146R
c.437A>G
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