Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM3
Variant:p.N252K

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.N252K
c.756C>A
Surrounding Variants
1 paper
NM_001080475.3
p.N252K
c.756C>G
1 paper
NM_001080475.3
p.L253F
c.757C>T
1 paper
NM_001080475.3
p.T256M
c.767C>T
3 papers
NM_001080475.3
p.D246N
c.736G>A
1 paper
NM_001080475.3
p.F262L
c.784T>C
1 paper
NM_001080475.3
p.F262L
c.786C>G
1 paper
NM_001080475.3
p.F262L
c.786C>A
1 paper
NM_001080475.3
p.Q285H
c.855G>T
1 paper
NM_001080475.3
p.Q285H
c.855G>C
1 paper
NM_001080475.3
p.L218V
c.652C>G
1 paper
NM_001080475.3
p.L288insFs
c.863_864insA
1 paper
NM_001080475.3
p.K289R
c.866A>G
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