Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM3
Variant:p.L218V

PLEKHM3

107 papers

Pfam Domains

PHaa 362–456UCSCPH domain
RH_domaa 529–730UCSCRubicon Homology Domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing M3

HGNC Previous Symbol

PLEKHM1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080475.3
p.L218V
c.652C>G
Surrounding Variants
1 paper
NM_001080475.3
p.K215N
c.645G>T
1 paper
NM_001080475.3
p.K215N
c.645G>C
1 paper
NM_001080475.3
p.P210L
c.629C>T
1 paper
NM_001080475.3
p.F209F
c.627C>T
1 paper
NM_001080475.3
p.T208I
c.623C>T
1 paper
NM_001080475.3
p.H205R
c.614A>G
3 papers
NM_001080475.3
p.D246N
c.736G>A
1 paper
NM_001080475.3
p.N252K
c.756C>G
1 paper
NM_001080475.3
p.N252K
c.756C>A
1 paper
NM_001080475.3
p.L253F
c.757C>T
1 paper
NM_001080475.3
p.T256M
c.767C>T
1 paper
NM_001080475.3
p.F262L
c.784T>C
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