Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R567R

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
2 papers
NM_000444.6
p.R567R
c.1701A>C
Surrounding Variants
2 papers
NM_000444.6
p.L569delFs
c.1705_1706delCT
1 paper
NM_000444.6
p.R567Splc
c.1701-1G>C
2 papers
NM_000444.6
p.S568P
c.1702T>C
1 paper
NM_000444.6
p.S568fs
c.1702_1703fs
1 paper
NM_000444.6
p.R567Splc
c.1701-2A>G
2 papers
NM_000444.6
p.R567Splc
c.1701-2A>T
1 paper
NM_000444.6
p.L569fs
c.1705_1706fs
3 papers
NM_000444.6
p.L569_S570insFs
c.1707_1710dup4
1 paper
NM_000444.6
p.L569P
c.1706T>C
2 papers
NM_000444.6
p.L569R
c.1706T>G
1 paper
NM_000444.6
p.S570delFs
c.1708delA
1 paper
NM_000444.6
p.S570fs
c.1708_1709fs
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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."