Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHF2

PLEKHF2

11 papers

Pfam Domains

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

Gene Aliases

HGNC Name

pleckstrin homology and FYVE domain containing 2

HGNC Alias Symbols

ZFYVE18; PHAFIN2; FLJ13187

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_024613.4
p.N7K
c.21C>A
1 paper
NM_024613.4
p.N7K
c.21C>G
1 paper
NM_024613.4
p.T12A
c.34A>G
1 paper
NM_024613.4
p.R14P
c.41G>C
1 paper
NM_024613.4
p.V18A
c.53T>C
1 paper
NM_024613.4
p.P28T
c.82C>A
1 paper
NM_024613.4
p.F58fs
c.172_173fs
1 paper
NM_024613.4
p.C129W
c.387T>G
1 paper
NM_024613.4
p.S135C
c.404C>G
1 paper
NM_024613.4
p.K139N
c.417G>T
1 paper
NM_024613.4
p.P185T
c.553C>A
1 paper
NM_024613.4
p.S212F
c.635C>T
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