Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM3
Variant:p.M71L

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
2 papers
NM_001080475.3
p.M71L
c.211A>T
Surrounding Variants
1 paper
NM_001080475.3
p.M71T
c.212T>C
1 paper
NM_001080475.3
p.A85delFs
c.253delC
1 paper
NM_001080475.3
p.L45delFs
c.134delA
1 paper
NM_001080475.3
p.G38W
c.112G>T
1 paper
NM_001080475.3
p.A34T
c.100G>A
1 paper
NM_001080475.3
p.F117insFs
c.349_350insT
1 paper
NM_001080475.3
p.S21N
c.62G>A
1 paper
NM_001080475.3
p.F20C
c.59T>G
1 paper
NM_001080475.3
p.R127W
c.379A>T
1 paper
NM_001080475.3
p.R129W
c.385C>T
1 paper
NM_001080475.3
p.Q124_R129delFs
c.372_387del16
1 paper
NM_001080475.3
p.P130H
c.389C>A
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