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

4 papers

NM_001136035.4

p.R323C

c.967C>T

Surrounding Variants

1 paper

NM_001136035.4

p.R323_V324insTCC

c.967_971ins9

1 paper

NM_001136035.4

p.R327H

c.980G>A

1 paper

NM_001136035.4

p.L314_S315delFs

c.942_943delTG

1 paper

NM_001136035.4

p.Q332R

c.995A>G

1 paper

NM_001136035.4

p.P312L

c.935C>T

1 paper

NM_001136035.4

p.R302H

c.905G>A

1 paper

NM_001136035.4

p.L296P

c.887T>C

1 paper

NM_001136035.4

p.L296fs

c.886_887fs

1 paper

NM_001136035.4

p.V295insFs

c.884dupT

1 paper

NM_001136035.4

p.V295I

c.883G>A

2 papers

NM_001136035.4

p.C348R

c.1042T>C

1 paper

NM_001136035.4

p.G360C

c.1078G>T