Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.A22S

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
7 papers
NM_000444.6
p.A22S
c.64G>T
Surrounding Variants
2 papers
NM_000444.6
p.L23_V25delFs
c.67_74del8
1 paper
NM_000444.6
p.I21V
c.61A>G
1 paper
NM_000444.6
p.I21fs
c.61_62fs
2 papers
NM_000444.6
p.L23delFs
c.68delT
2 papers
NM_000444.6
p.L23fs
c.67_68fs
1 paper
NM_000444.6
p.I21_A22del2
c.61_65del6
1 paper
NM_000444.6
p.L23P
c.68T>C
1 paper
NM_000444.6
p.I21insFs
c.61dupA
1 paper
NM_000444.6
p.V24_V25delFs
c.70_74del5
2 papers
NM_000444.6
p.R20_I21insAG
c.58_62ins6
25 papers
NM_000444.6
p.R20*
c.58C>T
1 paper
NM_000444.6
p.V25fs
c.73_74fs
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