Varaico: Literature-Extracted Genetic Variants

TRMT1

88 papers

RefSeq Summary

This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity ...

Pfam Domains

TRMaa 45–500UCSCN2,N2-dimethylguanosine tRNA methyltransferase

zf-CCCHaa 601–626UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)

Gene Aliases

HGNC Name

tRNA methyltransferase 1

HGNC Alias Symbols

FLJ20244; TRM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001136035.4

p.N70S

c.209A>G

Surrounding Variants

1 paper

NM_001136035.4

p.V72_F73insFs

c.216_217insA

1 paper

NM_001136035.4

p.F80Y

c.239T>A

1 paper

NM_001136035.4

p.P49T

c.145C>A

1 paper

NM_001136035.4

p.P43L

c.128C>T

1 paper

NM_001136035.4

p.F24_N33del10

c.70_98del30

1 paper

NM_001136035.4

p.P29fs

c.85_86fs

1 paper

NM_001136035.4

p.T85Splc

c.255-4C>G

1 paper

NM_001136035.4

p.T85Splc

c.255-1G>T

1 paper

NM_001136035.4

p.C86fs

c.256_257fs

1 paper

NM_001136035.4

p.L18F

c.52C>T

1 paper

NM_001136035.4

p.R16G

c.46C>G

1 paper

NM_001136035.4

p.A15A

c.45C>T