Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.*750L

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.*750L
c.2249A>T
Surrounding Variants
3 papers
NM_000444.6
p.*750Y
c.2250G>C
1 paper
NM_000444.6
p.*750Y
c.2250G>T
1 paper
NM_000444.6
p.*750K
c.2248T>A
1 paper
NM_000444.6
p.*750Q
c.2248T>C
1 paper
NM_000444.6
p.*750insFs
c.2248_2249insA
1 paper
NM_000444.6
p.W749*
c.2246G>A
5 papers
NM_000444.6
p.W749S
c.2246G>C
13 papers
NM_000444.6
p.W749R
c.2245T>A
13 papers
NM_000444.6
p.W749R
c.2245T>C
1 paper
NM_000444.6
p.W749insFs
c.2245_2246ins4
1 paper
NM_000444.6
p.W749fs
c.2245_2246fs
1 paper
NM_000444.6
p.W749fs
c.2245_2246fs
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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."