Varaico: Literature-Extracted Genetic Variants

Gene:TRMT10C
Variant:p.K284E

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
1 paper
NM_017819.4
p.K284E
c.850A>G
Surrounding Variants
1 paper
NM_017819.4
p.I287S
c.860T>G
1 paper
NM_017819.4
p.T291N
c.872C>A
2 papers
NM_017819.4
p.T272A
c.814A>G
1 paper
NM_017819.4
p.D267D
c.801C>T
1 paper
NM_017819.4
p.Y262C
c.785A>G
1 paper
NM_017819.4
p.F312_K315del4
c.934_944del12
1 paper
NM_017819.4
p.D314N
c.940G>A
1 paper
NM_017819.4
p.N247S
c.740A>G
1 paper
NM_017819.4
p.R236T
c.707G>C
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.D339H
c.1015G>C
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