Varaico: Literature-Extracted Genetic Variants

Gene:TRMT44
Variant:p.R597C

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
2 papers
NM_152544.3
p.R597C
c.1789C>T
Surrounding Variants
1 paper
NM_152544.3
p.C601Y
c.1802G>A
1 paper
NM_152544.3
p.W585C
c.1755G>T
1 paper
NM_152544.3
p.W571*
c.1713G>A
1 paper
NM_152544.3
p.W571*
c.1712G>A
1 paper
NM_152544.3
p.G623R
c.1867G>A
1 paper
NM_152544.3
p.G623R
c.1867G>C
1 paper
NM_152544.3
p.Q557R
c.1670A>G
3 papers
NM_152544.3
p.R544C
c.1630C>T
1 paper
NM_152544.3
p.S511F
c.1532C>T
2 papers
NM_152544.3
p.R469W
c.1405C>T
1 paper
NM_152544.3
p.E643delFs
c.1928_1929delAG
1 paper
NM_152544.3
p.E649K
c.1945G>A
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