Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.W583*

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
5 papers
NM_016156.6
p.W583*
c.1748G>A
Surrounding Variants
5 papers
NM_016156.6
p.W583*
c.1749G>A
1 paper
NM_016156.6
p.Y579_R582Fs
c.1736_1745delinsCCFs
4 papers
NM_016156.6
p.Y579fs
c.1735_1736fs
1 paper
NM_016156.6
p.Y579*
c.1737T>G
1 paper
NM_016156.6
p.Y579*
c.1737T>A
1 paper
NM_016156.6
p.K588_P589ins8
c.1762_1766ins24
1 paper
NM_016156.6
p.W576*
c.1728G>A
3 papers
NM_016156.6
p.Q590*
c.1768C>T
1 paper
NM_016156.6
p.W576*
c.1727G>A
1 paper
NM_016156.6
p.L564_Y565insFs
c.1692_1693insT
1 paper
NM_016156.6
p.F551delFs
c.1653delG
1 paper
NM_016156.6
p.F551fs
c.1651_1652fs
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