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

1–12 of 161 variants

63 papers

NM_018006.5

p.A10S

c.28G>T

20 papers

NM_018006.5

p.V279M

c.835G>A

12 papers

NM_018006.5

p.Y77H

c.229T>C

10 papers

NM_018006.5

p.R361ins3

c.1081_1082ins9

9 papers

NM_018006.5

p.R227T

c.680G>C

8 papers

NM_018006.5

p.M1K

c.2T>A

7 papers

NM_018006.5

p.W39*

c.117G>A

7 papers

NM_018006.5

p.G272D

c.815G>A

6 papers

NM_018006.5

p.W39*

c.116G>A

6 papers

NM_018006.5

p.L233F

c.697C>T

6 papers

NM_018006.5

p.Q235_Y236Splc

c.706-1G>A

6 papers

NM_018006.5

p.L237_Q238insFs

c.711_712insG