Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHF1
Variant:p.L31P

PLEKHF1

29 papers

Pfam Domains

PHaa 36–131UCSCPH domain
FYVEaa 148–213UCSCFYVE zinc finger

Gene Aliases

HGNC Name

pleckstrin homology and FYVE domain containing 1

HGNC Alias Symbols

APPD; MGC4090; PHAFIN1; ZFYVE15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024310.5
p.L31P
c.92T>C
Surrounding Variants
1 paper
NM_024310.5
p.P32R
c.95C>G
1 paper
NM_024310.5
p.R34Q
c.101G>A
1 paper
NM_024310.5
p.A17A
c.51A>G
1 paper
NM_024310.5
p.C46*
c.138C>A
1 paper
NM_024310.5
p.A50S
c.148G>T
1 paper
NM_024310.5
p.R53G
c.157C>G
1 paper
NM_024310.5
p.R53H
c.158G>A
1 paper
NM_024310.5
p.I54M
c.162C>G
2 papers
NM_024310.5
p.N59T
c.176A>C
1 paper
NM_024310.5
p.Y64*
c.192T>A
1 paper
NM_024310.5
p.Y64*
c.192T>G
1 paper
NM_024310.5
p.I67M
c.201C>G
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