Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.A412Splc

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.A412Splc
c.1235-2A>G
Surrounding Variants
1 paper
NM_017646.6
p.A412Splc
c.1235-3C>G
5 papers
NM_017646.6
p.H419P
c.1256A>C
4 papers
NM_017646.6
p.E409K
c.1225G>A
NM_001312692.1
p.E327K
c.979G>A
1 paper
NM_017646.6
p.R408C
c.1222C>T
1 paper
NM_017646.6
p.G406V
c.1217G>T
1 paper
NM_017646.6
p.I405I
c.1215T>C
2 papers
NM_017646.6
p.R402Q
c.1205G>A
4 papers
NM_017646.6
p.R402*
c.1204C>T
1 paper
NM_017646.6
p.D398H
c.1192G>C
1 paper
NM_017646.6
p.S393N
c.1178G>A
2 papers
NM_017646.6
p.K391delFs
c.1171_1172delTT
2 papers
NM_017646.6
p.K391fs
c.1171_1172fs
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