Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHD1
Variant:p.T125S

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.T125S
c.374C>G
Surrounding Variants
1 paper
NM_001161498.2
p.L116_A118del0
c.346_354del9
1 paper
NM_001161498.2
p.G112V
c.335G>T
1 paper
NM_001161498.2
p.G88C
c.262G>T
1 paper
NM_001161498.2
p.R50Splc
c.150-7A>G
1 paper
NM_001161498.2
p.K150*
c.448A>T
1 paper
NM_001161498.2
p.L157M
c.469C>A
1 paper
NM_001161498.2
p.E173Q
c.517G>C
1 paper
NM_001161498.2
p.T174I
c.521C>T
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