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

2 papers

NM_001136035.4

p.C348R

c.1042T>C

Surrounding Variants

1 paper

NM_001136035.4

p.G360C

c.1078G>T

1 paper

NM_001136035.4

p.S363L

c.1088C>T

1 paper

NM_001136035.4

p.R369Splc

c.1107-1G>A

1 paper

NM_001136035.4

p.R369R

c.1107G>A

1 paper

NM_001136035.4

p.A370P

c.1108G>C

1 paper

NM_001136035.4

p.A370fs

c.1108_1109fs

1 paper

NM_001136035.4

p.G377C

c.1129G>T

1 paper

NM_001136035.4

p.R390insFs

c.1168_1169insC

1 paper

NM_001136035.4

p.Q332R

c.995A>G

1 paper

NM_001136035.4

p.Q389_R390del2

c.1165_1169del6

1 paper

NM_001136035.4

p.R327H

c.980G>A

4 papers

NM_001136035.4

p.R323C

c.967C>T