Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.I318K

MTMR2

182 papers

RefSeq Summary

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylino...

Pfam Domains

GRAMaa 67–185UCSCGRAM domain
Myotub-relatedaa 192–529UCSCMyotubularin-like phosphatase domain

Gene Aliases

HGNC Name

myotubularin related protein 2

HGNC Previous Symbol

CMT4B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016156.6
p.I318K
c.953T>A
Surrounding Variants
1 paper
NM_016156.6
p.D320A
c.959A>C
1 paper
NM_016156.6
p.S324S
c.972T>C
1 paper
NM_016156.6
p.V325V
c.975T>G
1 paper
NM_016156.6
p.N326N
c.978T>C
1 paper
NM_016156.6
p.A327A
c.981T>G
1 paper
NM_016156.6
p.N330D
c.988A>G
1 paper
NM_016156.6
p.G293_S296insFs
c.878_887dup10
1 paper
NM_016156.6
p.S296fs
c.886_887fs
1 paper
NM_016156.6
p.R295Q
c.884G>A
1 paper
NM_016156.6
p.R295*
c.883C>T
1 paper
NM_016156.6
p.S292G
c.874A>G
1 paper
NM_016156.6
p.V289I
c.865G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."