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

1 paper

NM_030934.5

p.F96delFs

c.287_288delAA

Surrounding Variants

1 paper

NM_030934.5

p.D103_A105del3

c.307_314del9

1 paper

NM_030934.5

p.Q87K

c.259C>A

1 paper

NM_030934.5

p.N112T

c.335A>C

1 paper

NM_030934.5

p.H81N

c.241C>A

1 paper

NM_030934.5

p.G116C

c.346G>T

1 paper

NM_030934.5

p.G116C

c.346G>T

1 paper

NM_030934.5

p.C121F

c.362G>T

1 paper

NM_030934.5

p.K126fs

c.376_377fs

1 paper

NM_030934.5

p.K126_E127delFs

c.378_379delCC

1 paper

NM_030934.5

p.C132S

c.394T>A

1 paper

NM_030934.5

p.C132ins3

c.395_396ins9

1 paper

NM_030934.5

p.C132S

c.395G>C