Varaico: Literature-Extracted Genetic Variants

Gene:MTMR12
Variant:p.V7G

MTMR12

52 papers

RefSeq Summary

Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this...

Pfam Domains

Myotub-relatedaa 300–501UCSCMyotubularin-like phosphatase domain
3-PAPaa 559–687UCSCMyotubularin-associated protein

Gene Aliases

HGNC Name

myotubularin related protein 12

HGNC Previous Symbol

PIP3AP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040446.3
p.V7G
c.20T>G
Surrounding Variants
1 paper
NM_001040446.3
p.A15A
c.45C>A
1 paper
NM_001040446.3
p.P26S
c.76C>T
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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."