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

13 papers

NM_012123.4

p.A428T

c.1282G>A

NM_001123226.2

p.A468T

c.1402G>A

Surrounding Variants

4 papers

NM_012123.4

p.R431W

c.1291C>T

2 papers

NM_012123.4

p.G425R

c.1273G>A

2 papers

NM_012123.4

p.G425R

c.1273G>C

1 paper

NM_001123226.2

p.A464A

c.1392C>T

1 paper

NM_012123.4

p.V422fs

c.1264_1265fs

2 papers

NM_012123.4

p.Q420_G421Splc

c.1261-5T>G

1 paper

NM_001123226.2

p.P477S

c.1429C>T

1 paper

NM_012123.4

p.R442G

c.1324C>G

1 paper

NM_001123226.2

p.G498G

c.1494C>T

9 papers

NM_001123226.2

p.R504C

c.1510C>T

NM_012123.4

p.R464C

c.1390C>T

1 paper

NM_012123.4

p.R469*

c.1405C>T

1 paper

NM_012123.4

p.R473C

c.1417C>T