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.K130R

c.389A>G

Surrounding Variants

1 paper

NM_001136035.4

p.K130fs

c.388_389fs

1 paper

NM_001136035.4

p.K130fs

c.388_389fs

1 paper

NM_001136035.4

p.K130delFs

c.389_390delTT

1 paper

NM_001136035.4

p.A136D

c.407C>A

1 paper

NM_001136035.4

p.D118Y

c.352G>T

1 paper

NM_001136035.4

p.V146M

c.436G>A

2 papers

NM_001136035.4

p.T112M

c.335C>T

1 paper

NM_001136035.4

p.D111G

c.332A>G

1 paper

NM_001136035.4

p.G108ins1

c.323_324insTCC

1 paper

NM_001136035.4

p.G108E

c.323G>A

1 paper

NM_001136035.4

p.K105R

c.314A>G

1 paper

NM_001136035.4

p.K105fs

c.313_314fs