Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.C85S

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.C85S
c.253T>A
Surrounding Variants
18 papers
NM_000444.6
p.C85R
c.253T>C
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.A84D
c.251C>A
3 papers
NM_000444.6
p.A84P
c.250G>C
1 paper
NM_000444.6
p.G87C
c.259G>T
4 papers
NM_000444.6
p.W88delFs
c.264delG
2 papers
NM_000444.6
p.F81L
c.243C>A
2 papers
NM_000444.6
p.F81L
c.243C>G
6 papers
NM_000444.6
p.W88*
c.263G>A
1 paper
NM_000444.6
p.W88L
c.263G>T
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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."