Varaico: Literature-Extracted Genetic Variants

Gene:MTMR12
Variant:p.K223*

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.K223*
c.667A>T
Surrounding Variants
1 paper
NM_001040446.3
p.N221S
c.662A>G
3 papers
NM_001040446.3
p.W211*
c.633G>A
2 papers
NM_001040446.3
p.W211*
c.632G>A
2 papers
NM_001040446.3
p.C236S
c.706T>A
1 paper
NM_001040446.3
p.C236S
c.707G>C
1 paper
NM_001040446.3
p.D206A
c.617A>C
2 papers
NM_001040446.3
p.D206N
c.616G>A
1 paper
NM_001040446.3
p.T188fs
c.562_563fs
1 paper
NM_001040446.3
p.I168V
c.502A>G
1 paper
NM_001040446.3
p.P263_I264Splc
c.789+13G>T
1 paper
NM_001040446.3
p.R163S
c.489G>T
1 paper
NM_001040446.3
p.R163S
c.489G>C
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