Varaico: Literature-Extracted Genetic Variants

Gene:TRMT44
Variant:p.A337T

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
Selected Variant
1 paper
NM_152544.3
p.A337T
c.1009G>A
Surrounding Variants
1 paper
NM_152544.3
p.L341_I342Splc
c.1024-2A>G
3 papers
NM_152544.3
p.R352G
c.1054A>G
1 paper
NM_152544.3
p.R352R
c.1056A>G
1 paper
NM_152544.3
p.S358F
c.1073C>T
1 paper
NM_152544.3
p.G377E
c.1130G>A
1 paper
NM_152544.3
p.M316I
c.948G>A
1 paper
NM_152544.3
p.M316I
c.948G>C
1 paper
NM_152544.3
p.M316I
c.948G>T
1 paper
NM_152544.3
p.M316T
c.947T>C
2 papers
NM_152544.3
p.M300L
c.898A>C
2 papers
NM_152544.3
p.M300L
c.898A>T
1 paper
NM_152544.3
p.A276V
c.827C>T
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