Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.C746S

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.C746S
c.2236T>A
Surrounding Variants
1 paper
NM_000444.6
p.C746fs
c.2236_2237fs
2 papers
NM_000444.6
p.C746fs
c.2236_2237fs
1 paper
NM_000444.6
p.C746insFs
c.2236dupT
4 papers
NM_000444.6
p.C746Y
c.2237G>A
1 paper
NM_000444.6
p.C746S
c.2237G>C
1 paper
NM_000444.6
p.C746F
c.2237G>T
2 papers
NM_000444.6
p.R747delFs
c.2239delC
3 papers
NM_000444.6
p.C746*
c.2238C>A
7 papers
NM_000444.6
p.C746W
c.2238C>G
36 papers
NM_000444.6
p.R747*
c.2239C>T
2 papers
NM_000444.6
p.R747fs
c.2239_2240fs
1 paper
NM_000444.6
p.S745P
c.2233T>C
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