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.R68P

c.203G>C

Surrounding Variants

1 paper

NM_012123.4

p.V69A

c.206T>C

1 paper

NM_012123.4

p.T66P

c.196A>C

4 papers

NM_012123.4

p.G59A

c.176G>C

1 paper

NM_012123.4

p.R57L

c.170G>T

1 paper

NM_012123.4

p.R57W

c.169C>T

3 papers

NM_012123.4

p.V41G

c.122T>G

1 paper

NM_012123.4

p.D38A

c.113A>C

1 paper

NM_012123.4

p.P32L

c.95C>T

1 paper

NM_012123.4

p.A31P

c.91G>C

1 paper

NM_012123.4

p.A23T

c.67G>A

1 paper

NM_012123.4

p.T16N

c.47C>A

1 paper

NM_012123.4

p.A12T

c.34G>A