Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHN1
Variant:p.K278E

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
2 papers
NM_032129.3
p.K278E
c.832A>G
Surrounding Variants
1 paper
NM_032129.3
p.Q281*
c.841C>T
1 paper
NM_032129.3
p.E265K
c.793G>A
1 paper
NM_032129.3
p.R318G
c.952A>G
3 papers
NM_032129.3
p.E319G
c.956A>G
1 paper
NM_032129.3
p.G332E
c.995G>A
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.S345P
c.1033T>C
1 paper
NM_032129.3
p.S345L
c.1034C>T
1 paper
NM_032129.3
p.G346D
c.1037G>A
1 paper
NM_032129.3
p.Q236_E237Splc
c.709-6A>C
1 paper
NM_032129.3
p.T363P
c.1087A>C
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