Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.N588I

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.N588I
c.1763A>T
Surrounding Variants
3 papers
NM_000444.6
p.N589_G590delFs
c.1765_1768del4
1 paper
NM_000444.6
p.N589fs
c.1765_1766fs
2 papers
NM_000444.6
p.N589fs
c.1765_1766fs
1 paper
NM_000444.6
p.G590S
c.1768G>A
4 papers
NM_000444.6
p.G590Splc
c.1768+1G>A
3 papers
NM_000444.6
p.G590Splc
c.1768+1G>C
2 papers
NM_000444.6
p.G590Splc
c.1768+1G>T
4 papers
NM_000444.6
p.F586S
c.1757T>C
8 papers
NM_000444.6
p.G590Splc
c.1768+2T>G
6 papers
NM_000444.6
p.G590Splc
c.1768+5G>A
4 papers
NM_000444.6
p.G585R
c.1753G>A
2 papers
NM_000444.6
p.G585R
c.1753G>C
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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."