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.R477H

c.1430G>A

NM_133645.3

p.R502H

c.1505G>A

NM_001123226.2

p.R517H

c.1550G>A

Surrounding Variants

1 paper

NM_012123.4

p.R477C

c.1429C>T

1 paper

NM_012123.4

p.D479G

c.1436A>G

1 paper

NM_012123.4

p.D479V

c.1436A>T

1 paper

NM_012123.4

p.R473C

c.1417C>T

5 papers

NM_012123.4

p.R484W

c.1450C>T

2 papers

NM_012123.4

p.R484Q

c.1451G>A

1 paper

NM_012123.4

p.R469*

c.1405C>T

3 papers

NM_012123.4

p.R488*

c.1462C>T

9 papers

NM_001123226.2

p.R504C

c.1510C>T

NM_012123.4

p.R464C

c.1390C>T

1 paper

NM_001123226.2

p.G498G

c.1494C>T

1 paper

NM_012123.4

p.R442G

c.1324C>G

1 paper

NM_001123226.2

p.P477S

c.1429C>T