Varaico: Literature-Extracted Genetic Variants

TRMU

172 papers

RefSeq Summary

This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in ...

Pfam Domains

tRNA_Me_transaa 5–90UCSCtRNA methyl transferase HUP domain

tRNA_Me_transaa 5–226UCSCtRNA methyl transferase HUP domain

tRNA_Me_trans_Maa 230–293UCSCtRNA methyl transferase PRC-barrel domain

tRNA_Me_trans_Caa 302–383UCSCAminomethyltransferase beta-barrel domain

Gene Aliases

HGNC Name

tRNA mitochondrial 2-thiouridylase

HGNC Alias Symbols

FLJ10140; MTO2; MTU1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018006.5

p.M219T

c.656T>C

Surrounding Variants

2 papers

NM_018006.5

p.S218I

c.653G>T

1 paper

NM_018006.5

p.E217_S218Splc

c.652-2A>G

1 paper

NM_018006.5

p.M221I

c.663G>A

1 paper

NM_018006.5

p.M221I

c.663G>C

1 paper

NM_018006.5

p.M221I

c.663G>T

1 paper

NM_018006.5

p.C222G

c.664T>G

1 paper

NM_018006.5

p.I224S

c.671T>G

1 paper

NM_018006.5

p.G225delFs

c.673delG

1 paper

NM_018006.5

p.K226fs

c.676_677fs

9 papers

NM_018006.5

p.R227T

c.680G>C

1 paper

NM_018006.5

p.F232delFs

c.695_696delTC

6 papers

NM_018006.5

p.L233F

c.697C>T