Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHN1
Variant:p.Q236_E237Splc

PLEKHN1

68 papers

Gene Aliases

HGNC Name

pleckstrin homology domain containing N1

HGNC Alias Symbol

DKFZP434H2010

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032129.3
p.Q236_E237Splc
c.709-6A>C
Surrounding Variants
1 paper
NM_032129.3
p.D258E
c.774C>A
1 paper
NM_032129.3
p.D258E
c.774C>G
1 paper
NM_032129.3
p.A235T
c.703G>A
1 paper
NM_032129.3
p.G219G
c.657C>A
1 paper
NM_032129.3
p.A213V
c.638C>T
1 paper
NM_032129.3
p.G193insFs
c.577_578insC
1 paper
NM_032129.3
p.G193fs
c.577_578fs
1 paper
NM_032129.3
p.L192L
c.576C>T
1 paper
NM_032129.3
p.A176T
c.526G>A
1 paper
NM_032129.3
p.L168F
c.502C>T
1 paper
NM_032129.3
p.T161T
c.483A>G
1 paper
NM_032129.3
p.A157V
c.470C>T
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