Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.D419A

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.D419A
c.1256A>C
Surrounding Variants
9 papers
NM_016156.6
p.C417S
c.1250G>C
9 papers
NM_016156.6
p.C417S
c.1249T>A
1 paper
NM_016156.6
p.D422A
c.1265A>C
2 papers
NM_016156.6
p.Q426*
c.1276C>T
1 paper
NM_016156.6
p.T411T
c.1233G>A
1 paper
NM_016156.6
p.Y438C
c.1313A>G
1 paper
NM_016156.6
p.L400V
c.1198C>G
1 paper
NM_016156.6
p.R440Q
c.1319G>A
1 paper
NM_016156.6
p.R443*
c.1327C>T
1 paper
NM_016156.6
p.R443delFs
c.1327delG
2 papers
NM_016156.6
p.L394P
c.1181T>C
3 papers
NM_016156.6
p.L448P
c.1343T>C
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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."