Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.E652del1

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.E652del1
c.1954_1955delGAA
Surrounding Variants
2 papers
NM_000444.6
p.R651Q
c.1952G>A
14 papers
NM_000444.6
p.R651P
c.1952G>C
2 papers
NM_000444.6
p.R651_E652ins3
c.1953_1954ins9
1 paper
NM_000444.6
p.R651fs
c.1951_1952fs
1 paper
NM_000444.6
p.R651fs
c.1951_1952fs
4 papers
NM_000444.6
p.R651_R655del0
c.1952_1963del12
1 paper
NM_000444.6
p.R651_F654del4
c.1951_1961del12
1 paper
NM_000444.6
p.A653T
c.1957G>A
4 papers
NM_000444.6
p.L650P
c.1949T>C
6 papers
NM_000444.6
p.A653D
c.1958C>A
1 paper
NM_000444.6
p.F654insFs
c.1962dupT
4 papers
NM_000444.6
p.G649D
c.1946G>A
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