Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.L240W

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.L240W
c.719T>G
Surrounding Variants
1 paper
NM_017646.6
p.G251R
c.751G>C
1 paper
NM_017646.6
p.G251R
c.751G>A
1 paper
NM_017646.6
p.L253L
c.757T>C
1 paper
NM_017646.6
p.R257S
c.771A>T
1 paper
NM_017646.6
p.R257S
c.771A>C
1 paper
NM_017646.6
p.R262H
c.785G>A
1 paper
NM_017646.6
p.V268I
c.802G>A
1 paper
NM_017646.6
p.S272G
c.814A>G
4 papers
NM_017646.6
p.I283S
c.848T>G
1 paper
NM_017646.6
p.G284G
c.852C>T
3 papers
NM_017646.6
p.K286E
c.856A>G
2 papers
NM_017646.6
p.E295fs
c.883_884fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."