Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R291*

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
31 papers
NM_000444.6
p.R291*
c.871C>T
Surrounding Variants
1 paper
NM_000444.6
p.R291G
c.871C>G
1 paper
NM_000444.6
p.T292insFs
c.874dupA
1 paper
NM_000444.6
p.T292fs
c.874_875fs
1 paper
NM_000444.6
p.S293delFs
c.877_878delAG
1 paper
NM_000444.6
p.S293_E294ins5
c.877_881ins15
1 paper
NM_000444.6
p.S293_E294insFs
c.879_880ins8
1 paper
NM_000444.6
p.H288delFs
c.863delA
1 paper
NM_000444.6
p.E294_A295ins5
c.880_884ins15
1 paper
NM_000444.6
p.A295delFs
c.883delG
2 papers
NM_000444.6
p.P287L
c.860C>T
1 paper
NM_000444.6
p.A295T
c.883G>A
1 paper
NM_000444.6
p.A295fs
c.883_884fs
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