Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHF1
Variant:p.E121*

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.E121*
c.361G>T
Surrounding Variants
1 paper
NM_024310.5
p.R119C
c.355C>T
1 paper
NM_024310.5
p.T104T
c.312G>A
1 paper
NM_024310.5
p.G138S
c.412G>A
1 paper
NM_024310.5
p.T143T
c.429G>A
1 paper
NM_024310.5
p.E84D
c.252G>C
1 paper
NM_024310.5
p.E84D
c.252G>T
1 paper
NM_024310.5
p.E83A
c.248A>C
1 paper
NM_024310.5
p.R165H
c.494G>A
1 paper
NM_024310.5
p.N70S
c.209A>G
2 papers
NM_024310.5
p.R172C
c.514C>T
1 paper
NM_024310.5
p.I67M
c.201C>G
1 paper
NM_024310.5
p.Y64*
c.192T>A
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