Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.S8insFs

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.S8insFs
c.22dupA
Surrounding Variants
1 paper
NM_000444.6
p.S7_S8delFs
c.21_22delCA
1 paper
NM_000444.6
p.S7insFs
c.20dupG
1 paper
NM_000444.6
p.S7fs
c.19_20fs
1 paper
NM_000444.6
p.S7delFs
c.20_21delGC
1 paper
NM_000444.6
p.S7fs
c.19_20fs
2 papers
NM_000444.6
p.S8S
c.24C>T
1 paper
NM_000444.6
p.V9M
c.25G>A
2 papers
NM_000444.6
p.S7insFs
c.20_21insAG
2 papers
NM_000444.6
p.G6_S7delFs
c.18_21del4
2 papers
NM_000444.6
p.E10_G12delFs
c.30_36del7
1 paper
NM_000444.6
p.G6fs
c.16_17fs
3 papers
NM_000444.6
p.G6fs
c.16_17fs
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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."