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

1 paper

NM_001136035.4

p.S250R

c.748A>C

Surrounding Variants

1 paper

NM_001136035.4

p.S250insFs

c.749_750insT

1 paper

NM_001136035.4

p.V249fs

c.745_746fs

1 paper

NM_001136035.4

p.V249insFs

c.746_747insGT

1 paper

NM_001136035.4

p.S250fs

c.748_749fs

1 paper

NM_001136035.4

p.S250R

c.750T>G

1 paper

NM_001136035.4

p.S250R

c.750T>A

1 paper

NM_001136035.4

p.E251_G252del1

c.752_754delCTT

1 paper

NM_001136035.4

p.G253R

c.757G>A

1 paper

NM_001136035.4

p.L242L

c.724C>T

1 paper

NM_001136035.4

p.P238L

c.713C>T

1 paper

NM_001136035.4

p.D233A

c.698A>C

1 paper

NM_001136035.4

p.D231N

c.691G>A