Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.D48G

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.D48G
c.143A>G
Surrounding Variants
1 paper
NM_016156.6
p.S49F
c.146C>T
1 paper
NM_016156.6
p.S49_A54delFs
c.145_161del17
1 paper
NM_016156.6
p.K40*
c.118A>T
5 papers
NM_016156.6
p.S58A
c.172T>G
1 paper
NM_016156.6
p.P59delFs
c.176delG
1 paper
NM_016156.6
p.V37M
c.109G>A
1 paper
NM_016156.6
p.S36*
c.107C>G
1 paper
NM_016156.6
p.S36*
c.107C>A
1 paper
NM_016156.6
p.R62del1
c.184_185delCCT
1 paper
NM_016156.6
p.S33_E34insFs
c.99_100insT
1 paper
NM_016156.6
p.R62_V63Splc
c.186+19A>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."