Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G575E

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.G575E
c.1724G>A
Surrounding Variants
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
2 papers
NM_000444.6
p.V576_I577insFs
c.1728_1731dup4
3 papers
NM_000444.6
p.V576_H580del0
c.1727_1738del12
3 papers
NM_000444.6
p.I574K
c.1721T>A
1 paper
NM_000444.6
p.V576A
c.1727T>C
1 paper
NM_000444.6
p.I574_G575insAG
c.1720_1724ins6
1 paper
NM_000444.6
p.I574V
c.1720A>G
1 paper
NM_000444.6
p.I577del1
c.1729_1730delATT
1 paper
NM_000444.6
p.I577fs
c.1729_1730fs
1 paper
NM_000444.6
p.I577fs
c.1729_1730fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."