Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.I577del1

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.I577del1
c.1729_1730delATT
Surrounding Variants
1 paper
NM_000444.6
p.I577fs
c.1729_1730fs
1 paper
NM_000444.6
p.I577fs
c.1729_1730fs
1 paper
NM_000444.6
p.V576A
c.1727T>C
2 papers
NM_000444.6
p.V576_I577insFs
c.1728_1731dup4
3 papers
NM_000444.6
p.V576_H580del0
c.1727_1738del12
1 paper
NM_000444.6
p.G575E
c.1724G>A
1 paper
NM_000444.6
p.G575R
c.1723G>A
1 paper
NM_000444.6
p.G575R
c.1723G>C
1 paper
NM_000444.6
p.G575_V576insFs
c.1723_1727dup5
43 papers
NM_000444.6
p.G579R
c.1735G>A
40 papers
NM_000444.6
p.G579R
c.1735G>C
1 paper
NM_000444.6
p.G579*
c.1735G>T
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