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.Q464*

c.1390C>T

Surrounding Variants

1 paper

NM_001142554.3

p.R437Q

c.1310G>A

1 paper

NM_001136035.4

p.L465_R466del1

c.1394_1396delGCA

1 paper

NM_001136035.4

p.Y446*

c.1338C>G

1 paper

NM_001136035.4

p.Y446*

c.1338C>A

3 papers

NM_001136035.4

p.Y445fs

c.1333_1334fs

6 papers

NM_001136035.4

p.L444_Y445delFs

c.1332_1333delAC

NM_001142554.3

p.L415_Y416delFs

c.1245_1246delAC

4 papers

NM_001136035.4

p.Y445fs

c.1333_1334fs

1 paper

NM_001142554.3

p.L415fs

c.1243_1244fs

1 paper

NM_001136035.4

p.P443S

c.1327C>T

1 paper

NM_001136035.4

p.V442M

c.1324G>A

1 paper

NM_001136035.4

p.I428M

c.1284C>G

1 paper

NM_001136035.4

p.F422L

c.1266C>G