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

11 papers

NM_012123.4

p.T411I

c.1232C>T

Surrounding Variants

4 papers

NM_012123.4

p.I408F

c.1222A>T

1 paper

NM_012123.4

p.E415G

c.1244A>G

1 paper

NM_012123.4

p.T391S

c.1172C>G

1 paper

NM_012123.4

p.T391I

c.1172C>T

1 paper

NM_012123.4

p.T391S

c.1171A>T

1 paper

NM_012123.4

p.R388G

c.1162C>G

1 paper

NM_012123.4

p.D386Y

c.1156G>T

1 paper

NM_012123.4

p.G379C

c.1135G>T

1 paper

NM_001123226.2

p.Q420_T421Splc

c.1261-5T>G

1 paper

NM_012123.4

p.M361T

c.1082T>C

1 paper

NM_012123.4

p.Q358R

c.1073A>G

1 paper

NM_012123.4

p.A355T

c.1063G>A