Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHD1
Variant:p.S26R

PLEKHD1

30 papers

Pfam Domains

PHaa 29–136UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology and coiled-coil domain containing D1

HGNC Alias Symbol

UPF0639

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001161498.2
p.S26R
c.78C>A
Surrounding Variants
1 paper
NM_001161498.2
p.P39T
c.115C>A
1 paper
NM_001161498.2
p.P43S
c.127C>T
1 paper
NM_001161498.2
p.N7D
c.19A>G
1 paper
NM_001161498.2
p.R50Q
c.149G>A
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