Varaico: Literature-Extracted Genetic Variants

Gene:MTMR12
Variant:p.D287H

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
2 papers
NM_001040446.3
p.D287H
c.859G>C
Surrounding Variants
1 paper
NM_001040446.3
p.L276F
c.828G>T
1 paper
NM_001040446.3
p.L276F
c.828G>C
1 paper
NM_001040446.3
p.Q325H
c.975G>T
1 paper
NM_001040446.3
p.Q325H
c.975G>C
1 paper
NM_001040446.3
p.R368H
c.1103G>A
1 paper
NM_001040446.3
p.E378D
c.1134A>T
1 paper
NM_001040446.3
p.E378D
c.1134A>C
1 paper
NM_001040446.3
p.A382V
c.1145C>T
1 paper
NM_001040446.3
p.P263_I264Splc
c.789+13G>T
1 paper
NM_001040446.3
p.L407V
c.1219C>G
1 paper
NM_001040446.3
p.R437C
c.1309C>T
1 paper
NM_001040446.3
p.R442H
c.1325G>A
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