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

6 papers

NM_018006.5

p.W39*

c.116G>A

Surrounding Variants

7 papers

NM_018006.5

p.W39*

c.117G>A

1 paper

NM_018006.5

p.N38D

c.112A>G

1 paper

NM_018006.5

p.D43G

c.128A>G

2 papers

NM_018006.5

p.F35fs

c.103_104fs

1 paper

NM_018006.5

p.E44K

c.130G>A

3 papers

NM_018006.5

p.T32_G33delFs

c.96_97delAG

1 paper

NM_018006.5

p.Q30K

c.88C>A

1 paper

NM_018006.5

p.Y29ins1

c.85_86insATG

1 paper

NM_018006.5

p.A50A

c.150C>T

1 paper

NM_018006.5

p.K52R

c.155A>G

2 papers

NM_018006.5

p.C54delFs

c.160_161delTG

1 paper

NM_018006.5

p.C54*

c.162T>A