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

2 papers

NM_018006.5

p.R361C

c.1081C>T

Surrounding Variants

2 papers

NM_018006.5

p.R361ins3

c.1082_1083ins9

3 papers

NM_018006.5

p.A362T

c.1084G>A

1 paper

NM_018006.5

p.A356S

c.1066G>T

10 papers

NM_018006.5

p.R361ins3

c.1081_1082ins9

1 paper

NM_018006.5

p.G366E

c.1097G>A

1 paper

NM_018006.5

p.T355del1

c.1063_1064delACA

1 paper

NM_018006.5

p.D349fs

c.1045_1046fs

1 paper

NM_018006.5

p.N347K

c.1041T>A

1 paper

NM_018006.5

p.N347K

c.1041T>G

1 paper

NM_018006.5

p.L346fs

c.1036_1037fs

1 paper

NM_018006.5

p.N347_Q348insFs

c.1041_1044dup4

2 papers

NM_018006.5

p.L346_N347delFs

c.1037_1040del4