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.P512L

c.1535C>T

Surrounding Variants

1 paper

NM_030934.5

p.D555N

c.1663G>A

1 paper

NM_030934.5

p.P571_S573del3

c.1711_1718del9

1 paper

NM_030934.5

p.E588K

c.1762G>A

1 paper

NM_030934.5

p.T599I

c.1796C>T

1 paper

NM_030934.5

p.L619V

c.1855T>G

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.D711N

c.2131G>A

1 paper

NM_030934.5

p.W490R

c.1468T>C

1 paper

NM_030934.5

p.W490R

c.1468T>A

1 paper

NM_030934.5

p.Q483*

c.1447C>T

1 paper

NM_030934.5

p.K481R

c.1442A>G