Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.K299N

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.K299N
c.897A>C
Surrounding Variants
2 papers
NM_000444.6
p.K299N
c.897A>T
1 paper
NM_000444.6
p.M300fs
c.898_899fs
2 papers
NM_000444.6
p.M300delFs
c.899_900delTG
1 paper
NM_000444.6
p.M300fs
c.898_899fs
1 paper
NM_000444.6
p.K299fs
c.895_896fs
1 paper
NM_000444.6
p.K299fs
c.895_896fs
1 paper
NM_000444.6
p.M300T
c.899T>C
3 papers
NM_000444.6
p.M300delFs
c.898delA
4 papers
NM_000444.6
p.K299_M300delFs
c.897_898delAA
1 paper
NM_000444.6
p.N298I
c.893A>T
3 papers
NM_000444.6
p.Y297*
c.891C>A
3 papers
NM_000444.6
p.Y297*
c.891C>G
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