Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.Y297*

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.Y297*
c.891C>A
Surrounding Variants
3 papers
NM_000444.6
p.Y297*
c.891C>G
1 paper
NM_000444.6
p.N298I
c.893A>T
3 papers
NM_000444.6
p.M300delFs
c.898delA
4 papers
NM_000444.6
p.K299_M300delFs
c.897_898delAA
2 papers
NM_000444.6
p.M296Fs
c.888delinsATFs
1 paper
NM_000444.6
p.M296_Y297Fs
c.888_890delinsCFs
1 paper
NM_000444.6
p.K299fs
c.895_896fs
1 paper
NM_000444.6
p.K299fs
c.895_896fs
1 paper
NM_000444.6
p.M296delFs
c.888delG
2 papers
NM_000444.6
p.M296fs
c.886_887fs
2 papers
NM_000444.6
p.K299N
c.897A>C
2 papers
NM_000444.6
p.K299N
c.897A>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."