Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.S9delFs

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.S9delFs
c.25_26delCT
Surrounding Variants
1 paper
NM_016156.6
p.L10fs
c.28_29fs
1 paper
NM_016156.6
p.L10F
c.28C>T
1 paper
NM_016156.6
p.G11insFs
c.32dupG
1 paper
NM_016156.6
p.C7*
c.21C>A
1 paper
NM_016156.6
p.S6C
c.16A>T
1 paper
NM_016156.6
p.S5W
c.14C>G
1 paper
NM_016156.6
p.S4insFs
c.11_12insT
5 papers
NM_016156.6
p.K3T
c.8A>C
1 paper
NM_016156.6
p.M1insFs
c.2dupT
1 paper
NM_016156.6
p.M1insFs
c.1_2ins4
1 paper
NM_016156.6
p.M1R
c.2T>G
1 paper
NM_016156.6
p.M1K
c.2T>A
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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."