Varaico: Literature-Extracted Genetic Variants

Gene:MTMR12
Variant:p.P47fs

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.P47fs
c.139_140fs
Surrounding Variants
1 paper
NM_001040446.3
p.E38Q
c.112G>C
1 paper
NM_001040446.3
p.E35K
c.103G>A
1 paper
NM_001040446.3
p.F80Y
c.239T>A
1 paper
NM_001040446.3
p.T97delFs
c.289delT
1 paper
NM_001040446.3
p.T97fs
c.289_290fs
1 paper
NM_001040446.3
p.N107K
c.321T>A
1 paper
NM_001040446.3
p.E123Q
c.367G>C
1 paper
NM_001040446.3
p.G130R
c.388G>C
1 paper
NM_001040446.3
p.G130R
c.388G>A
1 paper
NM_001040446.3
p.H142Y
c.424C>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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