Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.Y345C

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
4 papers
NM_017646.6
p.Y345C
c.1034A>G
Surrounding Variants
1 paper
NM_017646.6
p.V344fs
c.1030_1031fs
1 paper
NM_017646.6
p.P343delFs
c.1029delA
1 paper
NM_017646.6
p.V344fs
c.1030_1031fs
1 paper
NM_017646.6
p.I340fs
c.1018_1019fs
1 paper
NM_017646.6
p.I340delFs
c.1018delT
1 paper
NM_017646.6
p.T379T
c.1137T>C
1 paper
NM_017646.6
p.I381V
c.1141A>G
1 paper
NM_017646.6
p.N386D
c.1156A>G
2 papers
NM_017646.6
p.K391fs
c.1171_1172fs
2 papers
NM_017646.6
p.K391delFs
c.1171_1172delTT
1 paper
NM_017646.6
p.S393N
c.1178G>A
1 paper
NM_017646.6
p.D398H
c.1192G>C
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