Varaico: Literature-Extracted Genetic Variants

TRMT1L

45 papers

RefSeq Summary

This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in ...

Pfam Domains

TRMaa 226–591UCSCN2,N2-dimethylguanosine tRNA methyltransferase

TRMaa 589–689UCSCN2,N2-dimethylguanosine tRNA methyltransferase

Gene Aliases

HGNC Name

tRNA methyltransferase 1L

HGNC Previous Symbol

C1orf25

Papers

RefSeq ID

Protein change

DNA change

1–12 of 68 variants

2 papers

NM_030934.5

p.L262L

c.786A>T

2 papers

NM_030934.5

p.K275N

c.825A>C

2 papers

NM_030934.5

p.N637S

c.1910A>G

2 papers

NM_030934.5

p.R667*

c.1999C>T

1 paper

NM_030934.5

p.L9L

c.27G>A

1 paper

NM_030934.5

p.L12delFs

c.35delA

1 paper

NM_030934.5

p.A36S

c.106G>T

1 paper

NM_030934.5

p.P35del1

c.103_104delTGG

1 paper

NM_030934.5

p.P37S

c.109C>T

1 paper

NM_030934.5

p.D44delFs

c.131_132delGT

1 paper

NM_030934.5

p.P53S

c.157C>T

1 paper

NM_030934.5

p.A64delFs

c.191delG