Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.E699*

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.E699*
c.2095G>T
Surrounding Variants
1 paper
NM_000444.6
p.P698insFs
c.2093_2094ins4
1 paper
NM_000444.6
p.P698fs
c.2092_2093fs
3 papers
NM_000444.6
p.P698fs
c.2092_2093fs
1 paper
NM_000444.6
p.A700fs
c.2098_2099fs
3 papers
NM_000444.6
p.A700delFs
c.2099delC
1 paper
NM_000444.6
p.A700fs
c.2098_2099fs
5 papers
NM_000444.6
p.P698delFs
c.2093delC
2 papers
NM_000444.6
p.A700delFs
c.2100delT
1 paper
NM_000444.6
p.R697fs
c.2089_2090fs
1 paper
NM_000444.6
p.R697delFs
c.2090delG
2 papers
NM_000444.6
p.R697fs
c.2089_2090fs
3 papers
NM_000444.6
p.R702delFs
c.2104delC
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