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.K245R

c.734A>G

Surrounding Variants

2 papers

NM_012123.4

p.K245fs

c.733_734fs

2 papers

NM_012123.4

p.K245delFs

c.734_735delAA

1 paper

NM_012123.4

p.N249D

c.745A>G

1 paper

NM_012123.4

p.P241L

c.722C>T

3 papers

NM_012123.4

p.H256R

c.767A>G

1 paper

NM_012123.4

p.T271K

c.812C>A

1 paper

NM_012123.4

p.G214R

c.640G>A

1 paper

NM_012123.4

p.G214R

c.640G>C

1 paper

NM_012123.4

p.R212C

c.634C>T

1 paper

NM_012123.4

p.G211R

c.631G>A

4 papers

NM_012123.4

p.G211fs

c.631_632fs

3 papers

NM_012123.4

p.G211delFs

c.631delG