Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.R111insFs

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
7 papers
NM_016156.6
p.R111insFs
c.331dupA
Surrounding Variants
1 paper
NM_016156.6
p.R111fs
c.331_332fs
3 papers
NM_016156.6
p.R111fs
c.331_332fs
1 paper
NM_016156.6
p.L112_Y113insFs
c.336_337insA
2 papers
NM_016156.6
p.N109fs
c.325_326fs
1 paper
NM_016156.6
p.T108delFs
c.324delC
2 papers
NM_016156.6
p.T108fs
c.322_323fs
13 papers
NM_016156.6
p.G103E
c.308G>A
1 paper
NM_016156.6
p.R102delFs
c.306delT
1 paper
NM_016156.6
p.V101I
c.301G>A
1 paper
NM_016156.6
p.A100T
c.298G>A
1 paper
NM_016156.6
p.G99_A100insT
c.295_299ins3
1 paper
NM_016156.6
p.P96S
c.286C>T
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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."