Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.F559delFs

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.F559delFs
c.1677delC
Surrounding Variants
2 papers
NM_000444.6
p.F560fs
c.1678_1679fs
3 papers
NM_000444.6
p.P558R
c.1673C>G
7 papers
NM_000444.6
p.P558A
c.1672C>G
1 paper
NM_000444.6
p.P558S
c.1672C>T
1 paper
NM_000444.6
p.G562insFs
c.1685dupG
2 papers
NM_000444.6
p.G562delFs
c.1685delG
2 papers
NM_000444.6
p.W561*
c.1682G>A
1 paper
NM_000444.6
p.K557fs
c.1669_1670fs
1 paper
NM_000444.6
p.K557fs
c.1669_1670fs
2 papers
NM_000444.6
p.W561*
c.1683G>A
1 paper
NM_000444.6
p.G562fs
c.1684_1685fs
1 paper
NM_000444.6
p.G562*
c.1684G>T
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