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

Selected Variant

2 papers

NM_030934.5

p.L262L

c.786A>T

Surrounding Variants

1 paper

NM_030934.5

p.R260W

c.778C>T

1 paper

NM_030934.5

p.E273K

c.817G>A

1 paper

NM_030934.5

p.K275N

c.825A>T

2 papers

NM_030934.5

p.K275N

c.825A>C

1 paper

NM_030934.5

p.R260W

c.778C>T

1 paper

NM_030934.5

p.L258L

c.772C>T

1 paper

NM_030934.5

p.G210E

c.629G>A

1 paper

NM_030934.5

p.A191del1

c.571_572delTGC

1 paper

NM_030934.5

p.G287_I288del1

c.860_862delTCC

1 paper

NM_030934.5

p.I288ins3

c.863_864ins9

1 paper

NM_030934.5

p.Q292*

c.874C>T

1 paper

NM_030934.5

p.E335*

c.1003G>T