Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.Y565delFs

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
3 papers
NM_000444.6
p.Y565delFs
c.1694delA
Surrounding Variants
1 paper
NM_000444.6
p.Y565fs
c.1693_1694fs
1 paper
NM_000444.6
p.Y565fs
c.1693_1694fs
2 papers
NM_000444.6
p.Y565*
c.1695T>A
2 papers
NM_000444.6
p.Y565*
c.1695T>G
1 paper
NM_000444.6
p.E564fs
c.1690_1691fs
2 papers
NM_000444.6
p.E564delFs
c.1692delA
1 paper
NM_000444.6
p.E564fs
c.1690_1691fs
1 paper
NM_000444.6
p.P566H
c.1697C>A
1 paper
NM_000444.6
p.T563fs
c.1687_1688fs
1 paper
NM_000444.6
p.R567R
c.1699C>A
1 paper
NM_000444.6
p.R567_S568ins7
c.1699_1703ins21
27 papers
NM_000444.6
p.R567*
c.1699C>T
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