Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.F582S

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
1 paper
NM_000444.6
p.F582S
c.1745T>C
Surrounding Variants
1 paper
NM_000444.6
p.E581D
c.1743A>C
1 paper
NM_000444.6
p.E581D
c.1743A>T
5 papers
NM_000444.6
p.E581V
c.1742A>T
3 papers
NM_000444.6
p.E581*
c.1741G>T
2 papers
NM_000444.6
p.H584Y
c.1750C>T
1 paper
NM_000444.6
p.E581_G585delFs
c.1743_1755del13
7 papers
NM_000444.6
p.H584P
c.1751A>C
3 papers
NM_000444.6
p.H580P
c.1739A>C
2 papers
NM_000444.6
p.H580D
c.1738C>G
4 papers
NM_000444.6
p.G585R
c.1753G>A
2 papers
NM_000444.6
p.G585R
c.1753G>C
4 papers
NM_000444.6
p.G579E
c.1736G>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."