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.Q219fs

c.655_656fs

Surrounding Variants

4 papers

NM_001136035.4

p.Q219H

c.657G>T

1 paper

NM_001136035.4

p.Q219fs

c.655_656fs

4 papers

NM_001136035.4

p.Q219H

c.657G>C

1 paper

NM_001136035.4

p.R214W

c.640C>T

1 paper

NM_001136035.4

p.R214Splc

c.642-5C>A

6 papers

NM_001136035.4

p.Q219_I230delFs

c.657_688del32

1 paper

NM_001136035.4

p.I230fs

c.688_689fs

1 paper

NM_001136035.4

p.D231N

c.691G>A

1 paper

NM_001136035.4

p.D233A

c.698A>C

1 paper

NM_001136035.4

p.P238L

c.713C>T

1 paper

NM_001136035.4

p.L242L

c.724C>T

1 paper

NM_001136035.4

p.V249insFs

c.746_747insGT