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.G601G

c.1803A>T

Surrounding Variants

1 paper

NM_012123.4

p.K600T

c.1799A>C

1 paper

NM_012123.4

p.L596P

c.1787T>C

2 papers

NM_133645.3

p.Q620insFs

c.1858dupC

1 paper

NM_012123.4

p.Y616H

c.1846T>C

5 papers

NM_012123.4

p.R620insFs

c.1858dupA

NM_001123226.2

p.R660insFs

c.1978dupA

9 papers

NM_012123.4

p.R620fs

c.1858_1859fs

NM_001123226.2

p.R660fs

c.1978_1979fs

1 paper

NM_133645.3

p.S650F

c.1949C>T

1 paper

NM_012123.4

p.H626Y

c.1876C>T

1 paper

NM_012123.4

p.H626R

c.1877A>G

1 paper

NM_133645.3

p.S660insFs

c.1978dupA

1 paper

NM_012123.4

p.T639_I640Splc

c.1918-7T>G

3 papers

NM_012123.4

p.R645S

c.1933C>A