Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA8
Variant:p.E389K

PLEKHA8

34 papers

Pfam Domains

PHaa 1–93UCSCPH domain
GLTPaa 330–436UCSCGlycolipid transfer protein (GLTP)
GLTPaa 330–472UCSCGlycolipid transfer protein (GLTP)

Gene Aliases

HGNC Name

pleckstrin homology domain containing A8

HGNC Alias Symbols

FAPP2; MGC3358

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001197026.2
p.E389K
c.1165G>A
Surrounding Variants
1 paper
NM_001197026.2
p.Q383Q
c.1149G>A
1 paper
NM_001197026.2
p.N375D
c.1123A>G
1 paper
NM_001197026.2
p.L406F
c.1218G>C
1 paper
NM_001197026.2
p.L406F
c.1218G>T
1 paper
NM_001197026.2
p.V368E
c.1103T>A
2 papers
NM_001197026.2
p.S313R
c.939T>A
2 papers
NM_001197026.2
p.S313R
c.939T>G
2 papers
NM_001197026.2
p.S313R
c.937A>C
2 papers
NM_001197026.2
p.E233K
c.697G>A
1 paper
NM_001197026.2
p.R213Splc
c.639-4G>A
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