Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.P287L

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
2 papers
NM_000444.6
p.P287L
c.860C>T
Surrounding Variants
1 paper
NM_000444.6
p.H288delFs
c.863delA
1 paper
NM_000444.6
p.M285delFs
c.854delT
2 papers
NM_000444.6
p.M285fs
c.853_854fs
1 paper
NM_000444.6
p.M285insFs
c.853dupA
1 paper
NM_000444.6
p.R291G
c.871C>G
31 papers
NM_000444.6
p.R291*
c.871C>T
1 paper
NM_000444.6
p.E283_I284Splc
c.850-1G>A
1 paper
NM_000444.6
p.E283_I284Splc
c.850-1G>C
2 papers
NM_000444.6
p.I284delFs
c.850delA
1 paper
NM_000444.6
p.I284_M285del1
c.852_854delAAT
3 papers
NM_000444.6
p.E283_I284Splc
c.850-2A>G
1 paper
NM_000444.6
p.T292insFs
c.874dupA
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