Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R697_P698insFs

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.R697_P698insFs
c.2089_2092dup4
Surrounding Variants
3 papers
NM_000444.6
p.Y696fs
c.2086_2087fs
4 papers
NM_000444.6
p.Y696*
c.2088C>A
4 papers
NM_000444.6
p.Y696*
c.2088C>G
2 papers
NM_000444.6
p.R697delFs
c.2090_2091delGA
1 paper
NM_000444.6
p.R697fs
c.2089_2090fs
1 paper
NM_000444.6
p.R697delFs
c.2090delG
2 papers
NM_000444.6
p.R697fs
c.2089_2090fs
3 papers
NM_000444.6
p.S695delFs
c.2085delC
3 papers
NM_000444.6
p.S695fs
c.2083_2084fs
5 papers
NM_000444.6
p.P698delFs
c.2093delC
3 papers
NM_000444.6
p.S695delFs
c.2083delT
1 paper
NM_000444.6
p.N694_S695insGA
c.2080_2084ins6
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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."