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.Q235_Y236Splc

c.706-1G>A

Surrounding Variants

1 paper

NM_018006.5

p.L237M

c.709C>A

1 paper

NM_018006.5

p.L237P

c.710T>C

6 papers

NM_018006.5

p.L237_Q238insFs

c.711_712insG

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

4 papers

NM_018006.5

p.R240*

c.718C>T

1 paper

NM_018006.5

p.G242D

c.725G>A

1 paper

NM_018006.5

p.L253P

c.758T>C

1 paper

NM_018006.5

p.Q235_Y236Splc

c.705+5G>A

6 papers

NM_018006.5

p.L233F

c.697C>T

1 paper

NM_018006.5

p.F232delFs

c.695_696delTC