Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.R364*

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.R364*
c.1090C>T
Surrounding Variants
1 paper
NM_016156.6
p.S362*
c.1085C>A
1 paper
NM_016156.6
p.E361K
c.1081G>A
1 paper
NM_016156.6
p.H357N
c.1069C>A
1 paper
NM_016156.6
p.N373fs
c.1117_1118fs
1 paper
NM_016156.6
p.N355D
c.1063A>G
1 paper
NM_016156.6
p.H354D
c.1060C>G
1 paper
NM_016156.6
p.T377T
c.1131C>T
1 paper
NM_016156.6
p.W379*
c.1136G>A
1 paper
NM_016156.6
p.W379*
c.1137G>A
1 paper
NM_016156.6
p.Q344*
c.1030C>T
1 paper
NM_016156.6
p.W388*
c.1163G>A
1 paper
NM_016156.6
p.W388*
c.1164G>A
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