Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.R162*

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
4 papers
NM_016156.6
p.R162*
c.484C>T
Surrounding Variants
1 paper
NM_016156.6
p.R159R
c.477G>A
1 paper
NM_016156.6
p.A164V
c.491C>T
1 paper
NM_016156.6
p.H165R
c.494A>G
1 paper
NM_016156.6
p.R170fs
c.508_509fs
3 papers
NM_016156.6
p.E177G
c.530A>G
1 paper
NM_016156.6
p.A183G
c.548C>G
1 paper
NM_016156.6
p.P185L
c.554C>T
1 paper
NM_016156.6
p.N189S
c.566A>G
1 paper
NM_016156.6
p.A194G
c.581C>G
1 paper
NM_016156.6
p.E196_Y197insFs
c.588_589ins8
1 paper
NM_016156.6
p.E199*
c.595G>T
1 paper
NM_016156.6
p.E199A
c.596A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."