Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.T738_S745del0

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.T738_S745del0
c.2214_2234del21
Surrounding Variants
1 paper
NM_000444.6
p.N736fs
c.2206_2207fs
2 papers
NM_000444.6
p.N736fs
c.2206_2207fs
2 papers
NM_000444.6
p.R741*
c.2221A>T
2 papers
NM_000444.6
p.P734delFs
c.2202delA
1 paper
NM_000444.6
p.C733*
c.2199T>A
7 papers
NM_000444.6
p.C733Y
c.2198G>A
9 papers
NM_000444.6
p.C733S
c.2198G>C
3 papers
NM_000444.6
p.C733F
c.2198G>T
8 papers
NM_000444.6
p.C733S
c.2197T>A
8 papers
NM_000444.6
p.C733R
c.2197T>C
1 paper
NM_000444.6
p.M743delFs
c.2229delG
1 paper
NM_000444.6
p.D744insFs
c.2230_2231insC
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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."