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

1–12 of 153 variants

6 papers

NM_001136035.4

p.Q219_I230delFs

c.657_688del32

5 papers

NM_001136035.4

p.L444_Y445delFs

c.1332_1333delAC

4 papers

NM_001136035.4

p.Q219H

c.657G>T

4 papers

NM_001136035.4

p.Q219H

c.657G>C

4 papers

NM_001136035.4

p.R323C

c.967C>T

4 papers

NM_001136035.4

p.Y445fs

c.1333_1334fs

3 papers

NM_001136035.4

p.N70S

c.209A>G

3 papers

NM_001136035.4

p.Q219fs

c.655_656fs

3 papers

NM_001136035.4

p.Y445fs

c.1333_1334fs

2 papers

NM_001136035.4

p.S9N

c.26G>A

2 papers

NM_001136035.4

p.T112M

c.335C>T

2 papers

NM_001136035.4

p.C348R

c.1042T>C