Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R17*

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
2 papers
NM_000444.6
p.R17*
c.49A>T
Surrounding Variants
1 paper
NM_000444.6
p.R17_G18insFs
c.51_52dupAG
1 paper
NM_000444.6
p.R17_G18del2
c.49_53del6
2 papers
NM_000444.6
p.G18_I21del4
c.52_62del12
1 paper
NM_000444.6
p.N16_G18del3
c.46_53del9
2 papers
NM_000444.6
p.A15_N16del2
c.43_47del6
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.I21insFs
c.61dupA
1 paper
NM_000444.6
p.I21_A22del2
c.61_65del6
1 paper
NM_000444.6
p.K13insFs
c.37_38insC
1 paper
NM_000444.6
p.I21V
c.61A>G
1 paper
NM_000444.6
p.I21fs
c.61_62fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."