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.K282E

c.844A>G

Surrounding Variants

21 papers

NM_018006.5

p.V279M

c.835G>A

NM_001282784.2

p.V139M

c.415G>A

1 paper

NM_018006.5

p.K286E

c.856A>G

2 papers

NM_018006.5

p.P276L

c.827C>T

1 paper

NM_018006.5

p.D288del1

c.862_863delGAC

7 papers

NM_018006.5

p.G272D

c.815G>A

1 paper

NM_018006.5

p.R267R

c.801A>G

1 paper

NM_018006.5

p.L253P

c.758T>C

1 paper

NM_018006.5

p.G242D

c.725G>A

4 papers

NM_018006.5

p.R240*

c.718C>T

1 paper

NM_018006.5

p.Q238insFs

c.712_713insG

1 paper

NM_018006.5

p.Q238fs

c.712_713fs

1 paper

NM_018006.5

p.Q238fs

c.712_713fs