Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.F202L

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
5 papers
NM_017646.6
p.F202L
c.606T>A
Surrounding Variants
5 papers
NM_017646.6
p.F202L
c.606T>G
5 papers
NM_017646.6
p.F202L
c.604T>C
3 papers
NM_017646.6
p.E194G
c.581A>G
1 paper
NM_017646.6
p.E194*
c.580G>T
1 paper
NM_017646.6
p.Q190*
c.568C>T
1 paper
NM_017646.6
p.L229F
c.685C>T
1 paper
NM_017646.6
p.L240W
c.719T>G
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
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