Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.E529Splc

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.E529Splc
c.1587-1G>C
Surrounding Variants
2 papers
NM_000444.6
p.E529Splc
c.1587-1G>A
1 paper
NM_000444.6
p.W530delFs
c.1590delG
5 papers
NM_000444.6
p.W530*
c.1589G>A
5 papers
NM_000444.6
p.W530*
c.1590G>A
4 papers
NM_000444.6
p.W530C
c.1590G>C
1 paper
NM_000444.6
p.F531insFs
c.1593dupT
3 papers
NM_000444.6
p.W530C
c.1590G>T
1 paper
NM_000444.6
p.T532fs
c.1594_1595fs
4 papers
NM_000444.6
p.P534T
c.1600C>A
2 papers
NM_000444.6
p.P534S
c.1600C>T
4 papers
NM_000444.6
p.T535_T536del1
c.1605_1607delGAC
1 paper
NM_000444.6
p.P534R
c.1601C>G
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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."