Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R567Splc

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.R567Splc
c.1700+5G>A
Surrounding Variants
1 paper
NM_000444.6
p.R567Splc
c.1700+5G>C
5 papers
NM_000444.6
p.R567Splc
c.1700+2T>C
5 papers
NM_000444.6
p.R567Splc
c.1700+1G>A
3 papers
NM_000444.6
p.R567Splc
c.1700+1G>C
3 papers
NM_000444.6
p.R567Splc
c.1700+1G>T
1 paper
NM_000444.6
p.R567Q
c.1700G>A
9 papers
NM_000444.6
p.R567P
c.1700G>C
1 paper
NM_000444.6
p.R567R
c.1699C>A
1 paper
NM_000444.6
p.R567_S568ins7
c.1699_1703ins21
27 papers
NM_000444.6
p.R567*
c.1699C>T
1 paper
NM_000444.6
p.P566H
c.1697C>A
2 papers
NM_000444.6
p.Y565*
c.1695T>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."