Varaico: Literature-Extracted Genetic Variants

Gene:MTMR12
Variant:p.R642G

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.R642G
c.1924C>G
Surrounding Variants
1 paper
NM_001040446.3
p.L664L
c.1992C>G
1 paper
NM_001040446.3
p.N608T
c.1823A>C
2 papers
NM_001040446.3
p.L591L
c.1771C>T
1 paper
NM_001040446.3
p.R701C
c.2101C>T
1 paper
NM_001040446.3
p.P707S
c.2119C>T
1 paper
NM_001040446.3
p.K717T
c.2150A>C
1 paper
NM_001040446.3
p.P545R
c.1634C>G
1 paper
NM_001040446.3
p.L540V
c.1618C>G
1 paper
NM_001040446.3
p.P530P
c.1590C>A
1 paper
NM_001040446.3
p.S525S
c.1575G>C
1 paper
NM_001040446.3
p.W522*
c.1566G>A
1 paper
NM_001040446.3
p.D482G
c.1445A>G
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