Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.E96*

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
1 paper
NM_000444.6
p.E96*
c.286G>T
Surrounding Variants
1 paper
NM_000444.6
p.E96delFs
c.288delA
1 paper
NM_000444.6
p.E96_D97del2
c.286_290del6
2 papers
NM_000444.6
p.E96E
c.288A>G
1 paper
NM_000444.6
p.D97fs
c.289_290fs
1 paper
NM_000444.6
p.D97A
c.290A>C
1 paper
NM_000444.6
p.M98insFs
c.292dupA
1 paper
NM_000444.6
p.M98fs
c.292_293fs
1 paper
NM_000444.6
p.I94F
c.280A>T
2 papers
NM_000444.6
p.M98insFs
c.293_294ins5
1 paper
NM_000444.6
p.P99fs
c.295_296fs
2 papers
NM_000444.6
p.N92_I94Fs
c.275_280delinsTFs
2 papers
NM_000444.6
p.N92fs
c.274_275fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."