Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.W88L

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.W88L
c.263G>T
Surrounding Variants
6 papers
NM_000444.6
p.W88*
c.263G>A
6 papers
NM_000444.6
p.W88*
c.264G>A
4 papers
NM_000444.6
p.W88delFs
c.264delG
1 paper
NM_000444.6
p.G87C
c.259G>T
1 paper
NM_000444.6
p.N91_M98del0
c.272_292del21
7 papers
NM_000444.6
p.C85Y
c.254G>A
3 papers
NM_000444.6
p.C85S
c.254G>C
6 papers
NM_000444.6
p.C85F
c.254G>T
3 papers
NM_000444.6
p.C85S
c.253T>A
18 papers
NM_000444.6
p.C85R
c.253T>C
2 papers
NM_000444.6
p.N92fs
c.274_275fs
2 papers
NM_000444.6
p.N92_I94Fs
c.275_280delinsTFs
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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."