Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G572D

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
12 papers
NM_000444.6
p.G572D
c.1715G>A
Surrounding Variants
2 papers
NM_000444.6
p.G572V
c.1715G>T
3 papers
NM_000444.6
p.G572S
c.1714G>A
1 paper
NM_000444.6
p.G572R
c.1714G>C
2 papers
NM_000444.6
p.G572C
c.1714G>T
1 paper
NM_000444.6
p.A573P
c.1717G>C
1 paper
NM_000444.6
p.Y571*
c.1713T>A
1 paper
NM_000444.6
p.Y571*
c.1713T>G
5 papers
NM_000444.6
p.A573D
c.1718C>A
1 paper
NM_000444.6
p.A573V
c.1718C>T
2 papers
NM_000444.6
p.Y571fs
c.1711_1712fs
1 paper
NM_000444.6
p.I574_G575insAG
c.1720_1724ins6
1 paper
NM_000444.6
p.I574V
c.1720A>G
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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."