Varaico: Literature-Extracted Genetic Variants

Gene:TRMT44
Variant:p.W146R

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.W146R
c.436T>C
Surrounding Variants
1 paper
NM_152544.3
p.W146R
c.436T>A
1 paper
NM_152544.3
p.E134insFs
c.401dupA
1 paper
NM_152544.3
p.S166insFs
c.496_497insG
1 paper
NM_152544.3
p.P120P
c.360C>T
1 paper
NM_152544.3
p.Q172*
c.514C>T
1 paper
NM_152544.3
p.A117V
c.350C>T
1 paper
NM_152544.3
p.R177C
c.529C>T
1 paper
NM_152544.3
p.T190I
c.569C>T
1 paper
NM_152544.3
p.S191N
c.572G>A
1 paper
NM_152544.3
p.C98*
c.294C>A
1 paper
NM_152544.3
p.T197R
c.590C>G
1 paper
NM_152544.3
p.S89S
c.267A>G
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