Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G719C

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.G719C
c.2155G>T
Surrounding Variants
1 paper
NM_000444.6
p.G719S
c.2155G>A
1 paper
NM_000444.6
p.G719fs
c.2155_2156fs
1 paper
NM_000444.6
p.G719fs
c.2155_2156fs
1 paper
NM_000444.6
p.G719delFs
c.2156delG
1 paper
NM_000444.6
p.A720_S722delFs
c.2158_2165del8
1 paper
NM_000444.6
p.N718fs
c.2152_2153fs
2 papers
NM_000444.6
p.N718fs
c.2152_2153fs
13 papers
NM_000444.6
p.A720T
c.2158G>A
1 paper
NM_000444.6
p.A720fs
c.2158_2159fs
7 papers
NM_000444.6
p.A720S
c.2158G>T
1 paper
NM_000444.6
p.A720E
c.2159C>A
1 paper
NM_000444.6
p.A720_E725delFs
c.2160_2175del16
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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."