Varaico: Literature-Extracted Genetic Variants

Gene:TRMT2B
Variant:p.V186M

TRMT2B

36 papers

RefSeq Summary

This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activit...

Pfam Domains

Methyltransf_31aa 342–461UCSCMethyltransferase domain

Gene Aliases

HGNC Name

tRNA methyltransferase 2B

HGNC Previous Symbol

CXorf34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024917.6
p.V186M
c.556G>A
Surrounding Variants
1 paper
NM_024917.6
p.N189K
c.567T>G
1 paper
NM_024917.6
p.N189K
c.567T>A
1 paper
NM_024917.6
p.N182D
c.544A>G
1 paper
NM_024917.6
p.D180Splc
c.539-3T>C
1 paper
NM_024917.6
p.N193T
c.578A>C
1 paper
NM_024917.6
p.P164P
c.492A>T
1 paper
NM_024917.6
p.S156F
c.467C>T
1 paper
NM_024917.6
p.S116_I118del0
c.346_354del9
1 paper
NM_024917.6
p.Q112K
c.334C>A
1 paper
NM_024917.6
p.W92S
c.275G>C
1 paper
NM_024917.6
p.S66fs
c.196_197fs
1 paper
NM_024917.6
p.S66delFs
c.196delT
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