Varaico: Literature-Extracted Genetic Variants

MTO1

199 papers

RefSeq Summary

This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-...

Pfam Domains

GIDAaa 38–461UCSCGlucose inhibited division protein A

GIDA_C_1staa 523–621UCSCtRNA modifying enzyme MnmG/GidA C-terminal helical domain

SAM_GIDA_Caa 623–709UCSCtRNA modifying enzyme MnmG/GidA C-terminal helical bundle

Gene Aliases

HGNC Name

mitochondrial tRNA translation optimization 1

HGNC Previous Name

mitochondrial translation optimization 1 homolog (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012123.4

p.R328H

c.983G>A

Surrounding Variants

1 paper

NM_012123.4

p.K321N

c.963A>C

1 paper

NM_012123.4

p.K321N

c.963A>T

2 papers

NM_012123.4

p.K321insFs

c.961_962insC

1 paper

NM_012123.4

p.K321E

c.961A>G

1 paper

NM_012123.4

p.S320*

c.959C>A

1 paper

NM_012123.4

p.S320*

c.959C>G

1 paper

NM_012123.4

p.E319G

c.956A>G

1 paper

NM_012123.4

p.I318N

c.953T>A

1 paper

NM_012123.4

p.Y345*

c.1035C>G

1 paper

NM_012123.4

p.G348E

c.1043G>A

1 paper

NM_012123.4

p.L349S

c.1046T>C

2 papers

NM_012123.4

p.T352M

c.1055C>T