Varaico: Literature-Extracted Genetic Variants

Gene:TRMT5

TRMT5

58 papers

RefSeq Summary

tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 posi...

Pfam Domains

TYW2_N_2aa 182–260UCSCTYW2 N-terminal domain
TRM5-TYW2_MTfaseaa 263–438UCSCTRM5/TYW2 methyltransferase domain

Gene Aliases

HGNC Name

tRNA methyltransferase 5

HGNC Previous Symbol

KIAA1393

Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
7 papers
NM_020810.3
p.E104_I105delFs
c.312_315del4
7 papers
NM_020810.3
p.R291H
c.872G>A
6 papers
NM_020810.3
p.F312_P315del4
c.934_944del12
5 papers
NM_020810.3
p.I105fs
c.313_314fs
4 papers
NM_020810.3
p.M386V
c.1156A>G
3 papers
NM_020810.3
p.T494M
c.1481C>T
2 papers
NM_020810.3
p.I206T
c.617T>C
2 papers
NM_020810.3
p.I222T
c.665T>C
1 paper
NM_020810.3
p.M1I
c.3G>T
1 paper
NM_020810.3
p.M1I
c.3G>C
1 paper
NM_020810.3
p.M1I
c.3G>A
1 paper
NM_020810.3
p.W4Splc
c.12-3A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."