Varaico: Literature-Extracted Genetic Variants

Gene:TRMT10C
Variant:p.R181L

TRMT10C

53 papers

RefSeq Summary

This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mito...

Pfam Domains

TRM10_TRM10Aaa 122–381UCSCtRNA (guanine(9)-N(1))-methyltransferase TRM10/TRM10A

Gene Aliases

HGNC Name

tRNA methyltransferase 10C, mitochondrial RNase P subunit

HGNC Previous Symbol

RG9MTD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_017819.4
p.R181L
c.542G>T
Surrounding Variants
2 papers
NM_017819.4
p.R181Q
c.542G>A
1 paper
NM_017819.4
p.R181_I189del9
c.541_566del27
1 paper
NM_017819.4
p.R157T
c.470G>C
1 paper
NM_017819.4
p.K144insFs
c.432dupA
1 paper
NM_017819.4
p.E229D
c.687A>C
1 paper
NM_017819.4
p.E229D
c.687A>T
1 paper
NM_017819.4
p.Y132fs
c.394_395fs
1 paper
NM_017819.4
p.Y132delFs
c.394delT
1 paper
NM_017819.4
p.A128fs
c.382_383fs
1 paper
NM_017819.4
p.R236T
c.707G>C
1 paper
NM_017819.4
p.E116K
c.346G>A
1 paper
NM_017819.4
p.N247S
c.740A>G
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