Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.E199A

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.E199A
c.596A>C
Surrounding Variants
1 paper
NM_016156.6
p.E199*
c.595G>T
1 paper
NM_016156.6
p.E196_Y197insFs
c.588_589ins8
1 paper
NM_016156.6
p.A194G
c.581C>G
1 paper
NM_016156.6
p.W206*
c.618G>A
1 paper
NM_016156.6
p.L213V
c.637T>G
1 paper
NM_016156.6
p.Q218_G219insFs
c.654_655ins7
1 paper
NM_016156.6
p.Q218_G219Splc
c.654+1G>A
1 paper
NM_016156.6
p.N189S
c.566A>G
1 paper
NM_016156.6
p.P185L
c.554C>T
1 paper
NM_016156.6
p.A183G
c.548C>G
3 papers
NM_016156.6
p.E177G
c.530A>G
1 paper
NM_016156.6
p.R170fs
c.508_509fs
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."