Varaico: Literature-Extracted Genetic Variants

Gene:TRMT44

TRMT44

43 papers

RefSeq Summary

The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not b...

Pfam Domains

AdoMet_MTaseaa 296–407UCSCPredicted AdoMet-dependent methyltransferase

Gene Aliases

HGNC Name

tRNA methyltransferase 44 homolog

HGNC Previous Symbols

C4orf23; METTL19

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
3 papers
NM_152544.3
p.R352G
c.1054A>G
3 papers
NM_152544.3
p.R544C
c.1630C>T
2 papers
NM_152544.3
p.M300L
c.898A>C
2 papers
NM_152544.3
p.M300L
c.898A>T
2 papers
NM_152544.3
p.R469W
c.1405C>T
2 papers
NM_152544.3
p.R597C
c.1789C>T
1 paper
NM_152544.3
p.W21_A22insFs
c.63_64ins4
1 paper
NM_152544.3
p.A45P
c.133G>C
1 paper
NM_152544.3
p.S78F
c.233C>T
1 paper
NM_152544.3
p.R86S
c.258G>C
1 paper
NM_152544.3
p.R86S
c.258G>T
1 paper
NM_152544.3
p.S89S
c.267A>G
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