Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R549Splc

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
7 papers
NM_000444.6
p.R549Splc
c.1645+5G>A
Surrounding Variants
4 papers
NM_000444.6
p.R549Splc
c.1645+4A>G
1 paper
NM_000444.6
p.R549Splc
c.1645+4A>T
3 papers
NM_000444.6
p.R549Splc
c.1645+6T>C
1 paper
NM_000444.6
p.R549Splc
c.1645+2T>C
2 papers
NM_000444.6
p.R549Splc
c.1645+2T>G
25 papers
NM_000444.6
p.R549Splc
c.1645+1G>A
7 papers
NM_000444.6
p.R549P
c.1646G>C
1 paper
NM_000444.6
p.R549Splc
c.1645+1G>T
26 papers
NM_000444.6
p.R549*
c.1645C>T
2 papers
NM_000444.6
p.I548T
c.1643T>C
2 papers
NM_000444.6
p.Q547P
c.1640A>C
4 papers
NM_000444.6
p.Q547*
c.1639C>T
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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."