Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G28fs

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.G28fs
c.82_83fs
Surrounding Variants
2 papers
NM_000444.6
p.G28S
c.82G>A
2 papers
NM_000444.6
p.G28delFs
c.83delG
2 papers
NM_000444.6
p.V27_G28insA
c.79_83ins3
2 papers
NM_000444.6
p.T30_I36del7
c.88_107del21
1 paper
NM_000444.6
p.F26fs
c.76_77fs
2 papers
NM_000444.6
p.F26fs
c.76_77fs
2 papers
NM_000444.6
p.F26delFs
c.77_78delTT
1 paper
NM_000444.6
p.L31L
c.91C>T
1 paper
NM_000444.6
p.V25fs
c.73_74fs
1 paper
NM_000444.6
p.L31P
c.92T>C
1 paper
NM_000444.6
p.V24_V25delFs
c.70_74del5
1 paper
NM_000444.6
p.V32_L33delFs
c.96_97delTC
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