Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R716Splc

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.R716Splc
c.2148-2A>T
Surrounding Variants
2 papers
NM_000444.6
p.R716Splc
c.2148-2A>C
2 papers
NM_000444.6
p.R716Splc
c.2148-2A>G
3 papers
NM_000444.6
p.R716delFs
c.2148delG
2 papers
NM_000444.6
p.R716Splc
c.2148-3C>G
1 paper
NM_000444.6
p.R716Splc
c.2148-1G>A
2 papers
NM_000444.6
p.R716Splc
c.2148-1G>C
2 papers
NM_000444.6
p.R716Splc
c.2148-1G>T
1 paper
NM_000444.6
p.V717_I721del5
c.2149_2162del15
1 paper
NM_000444.6
p.V717fs
c.2149_2150fs
3 papers
NM_000444.6
p.V717F
c.2149G>T
1 paper
NM_000444.6
p.V717fs
c.2149_2150fs
2 papers
NM_000444.6
p.V717D
c.2150T>A
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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."