Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.K69*

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
3 papers
NM_000444.6
p.K69*
c.205A>T
Surrounding Variants
1 paper
NM_000444.6
p.S68insFs
c.204dupT
2 papers
NM_000444.6
p.S68delFs
c.204delT
2 papers
NM_000444.6
p.S68fs
c.202_203fs
1 paper
NM_000444.6
p.V70fs
c.208_209fs
4 papers
NM_000444.6
p.V70fs
c.208_209fs
2 papers
NM_000444.6
p.L67*
c.200T>A
2 papers
NM_000444.6
p.L67*
c.200T>G
2 papers
NM_000444.6
p.L67_S68insFs
c.201_202dupAA
8 papers
NM_000444.6
p.V70_N71delFs
c.208_212del5
1 paper
NM_000444.6
p.L67fs
c.199_200fs
2 papers
NM_000444.6
p.N71T
c.212A>C
3 papers
NM_000444.6
p.N71I
c.212A>T
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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."