Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.H109fs

PHEX

452 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and d...

Pfam Domains

Peptidase_M13_Naa 76–479UCSCPeptidase family M13
Peptidase_M13aa 538–748UCSCPeptidase family M13

Gene Aliases

HGNC Name

phosphate regulating endopeptidase X-linked

HGNC Previous Symbols

HYP; HPDR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000444.6
p.H109fs
c.325_326fs
Surrounding Variants
1 paper
NM_000444.6
p.H109fs
c.325_326fs
2 papers
NM_000444.6
p.N110del1
c.328_329delAAT
3 papers
NM_000444.6
p.H109delFs
c.327delT
1 paper
NM_000444.6
p.R108K
c.323G>A
2 papers
NM_000444.6
p.H109insFs
c.325_326dupCA
1 paper
NM_000444.6
p.R108I
c.323G>T
1 paper
NM_000444.6
p.N110fs
c.328_329fs
2 papers
NM_000444.6
p.R108*
c.322A>T
2 papers
NM_000444.6
p.N110fs
c.328_329fs
1 paper
NM_000444.6
p.N110insFs
c.329_330insC
2 papers
NM_000444.6
p.V111del1
c.331_332delGTT
2 papers
NM_000444.6
p.N110N
c.330T>C
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