Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.D158G

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.D158G
c.473A>G
Surrounding Variants
1 paper
NM_017646.6
p.L154P
c.461T>C
1 paper
NM_017646.6
p.R150*
c.448C>T
1 paper
NM_017646.6
p.S167I
c.500G>T
4 papers
NM_017646.6
p.K146R
c.437A>G
1 paper
NM_017646.6
p.E172K
c.514G>A
1 paper
NM_017646.6
p.Q140fs
c.418_419fs
1 paper
NM_017646.6
p.Q140delFs
c.418delG
2 papers
NM_017646.6
p.A186D
c.557C>A
1 paper
NM_017646.6
p.K132*
c.394A>T
1 paper
NM_017646.6
p.P116fs
c.346_347fs
1 paper
NM_017646.6
p.P116T
c.346C>A
1 paper
NM_017646.6
p.I115delFs
c.345delA
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