Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.I281_T282delFs

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.I281_T282delFs
c.841_844del4
Surrounding Variants
4 papers
NM_016156.6
p.R283W
c.847C>T
1 paper
NM_016156.6
p.I281_T282insG
c.841_845ins3
1 paper
NM_016156.6
p.A279G
c.836C>G
11 papers
NM_016156.6
p.E276*
c.826G>T
1 paper
NM_016156.6
p.V289I
c.865G>A
1 paper
NM_016156.6
p.S292G
c.874A>G
1 paper
NM_016156.6
p.L270F
c.810A>T
1 paper
NM_016156.6
p.L270F
c.810A>C
1 paper
NM_016156.6
p.V269fs
c.805_806fs
1 paper
NM_016156.6
p.R295*
c.883C>T
1 paper
NM_016156.6
p.R295Q
c.884G>A
1 paper
NM_016156.6
p.P268_V269Splc
c.805-1G>A
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