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

1–12 of 154 variants

37 papers

NM_012123.4

p.K519E

c.1555A>G

12 papers

NM_012123.4

p.A428T

c.1282G>A

11 papers

NM_012123.4

p.T411I

c.1232C>T

8 papers

NM_012123.4

p.R477H

c.1430G>A

8 papers

NM_012123.4

p.R620fs

c.1858_1859fs

7 papers

NM_012123.4

p.R464C

c.1390C>T

5 papers

NM_012123.4

p.R484W

c.1450C>T

5 papers

NM_012123.4

p.R620insFs

c.1858dupA

4 papers

NM_012123.4

p.G59A

c.176G>C

4 papers

NM_012123.4

p.G211fs

c.631_632fs

4 papers

NM_012123.4

p.I408F

c.1222A>T

4 papers

NM_012123.4

p.R431W

c.1291C>T