Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.A3insFs

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.A3insFs
c.7_8insT
Surrounding Variants
1 paper
NM_000444.6
p.E2_A3insFs
c.6_7insT
1 paper
NM_000444.6
p.A3_G12delFs
c.7_34del28
1 paper
NM_000444.6
p.E4_G12del9
c.10_35del27
4 papers
NM_000444.6
p.E2delins
c.4delinsA
6 papers
NM_000444.6
p.E4Q
c.10G>C
1 paper
NM_000444.6
p.E4insFs
c.11dupA
3 papers
NM_000444.6
p.E2insFs
c.5_6insCA
1 paper
NM_000444.6
p.E2insFs
c.4_5insT
2 papers
NM_000444.6
p.E2*
c.4G>T
1 paper
NM_000444.6
p.E4*
c.10G>T
1 paper
NM_000444.6
p.M1I
c.3G>A
1 paper
NM_000444.6
p.M1I
c.3G>T
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