Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.S722fs

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
3 papers
NM_000444.6
p.S722fs
c.2164_2165fs
Surrounding Variants
3 papers
NM_000444.6
p.S722_Q728insFs
c.2165_2184dup20
1 paper
NM_000444.6
p.S722fs
c.2164_2165fs
2 papers
NM_000444.6
p.S722delFs
c.2164delA
2 papers
NM_000444.6
p.S722Fs
c.2166delinsGGFs
5 papers
NM_000444.6
p.N723insFs
c.2168dupA
1 paper
NM_000444.6
p.S722_C733delFs
c.2164_2197del34
1 paper
NM_000444.6
p.N723fs
c.2167_2168fs
6 papers
NM_000444.6
p.I721insFs
c.2162_2163ins4
1 paper
NM_000444.6
p.N723fs
c.2167_2168fs
2 papers
NM_000444.6
p.I721fs
c.2161_2162fs
1 paper
NM_000444.6
p.A720E
c.2159C>A
1 paper
NM_000444.6
p.A720_E725delFs
c.2160_2175del16
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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."