Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.Q714fs

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
3 papers
NM_000444.6
p.Q714fs
c.2140_2141fs
Surrounding Variants
1 paper
NM_000444.6
p.Q714fs
c.2140_2141fs
4 papers
NM_000444.6
p.Q714*
c.2140C>T
2 papers
NM_000444.6
p.Q714delFs
c.2140delC
1 paper
NM_000444.6
p.Q714H
c.2142G>C
1 paper
NM_000444.6
p.Q714H
c.2142G>T
5 papers
NM_000444.6
p.P713insFs
c.2138_2139dupCT
1 paper
NM_000444.6
p.P713fs
c.2137_2138fs
1 paper
NM_000444.6
p.P713fs
c.2137_2138fs
1 paper
NM_000444.6
p.P713_F715Fs
c.2137_2143delinsAAFs
1 paper
NM_000444.6
p.F715fs
c.2143_2144fs
2 papers
NM_000444.6
p.R716T
c.2147G>C
11 papers
NM_000444.6
p.S711R
c.2133T>A
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