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

63 papers

NM_018006.5

p.A10S

c.28G>T

Surrounding Variants

2 papers

NM_018006.5

p.S12insFs

c.34_35dupTC

1 paper

NM_018006.5

p.G13_D16ins1

c.37_48dup12

1 paper

NM_018006.5

p.V7V

c.21C>T

1 paper

NM_018006.5

p.G13fs

c.37_38fs

4 papers

NM_018006.5

p.G14S

c.40G>A

1 paper

NM_018006.5

p.V15M

c.43G>A

1 paper

NM_018006.5

p.V15G

c.44T>G

1 paper

NM_018006.5

p.L4V

c.10T>G

2 papers

NM_018006.5

p.D16A

c.47A>C

1 paper

NM_018006.5

p.A3T

c.7G>A

8 papers

NM_018006.5

p.M1K

c.2T>A

3 papers

NM_018006.5

p.M1T

c.2T>C