Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.I302V

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.I302V
c.904A>G
Surrounding Variants
1 paper
NM_000444.6
p.S303T
c.907T>A
1 paper
NM_000444.6
p.M300T
c.899T>C
1 paper
NM_000444.6
p.M300fs
c.898_899fs
2 papers
NM_000444.6
p.M300delFs
c.899_900delTG
1 paper
NM_000444.6
p.M300fs
c.898_899fs
2 papers
NM_000444.6
p.K299N
c.897A>C
2 papers
NM_000444.6
p.K299N
c.897A>T
1 paper
NM_000444.6
p.K299fs
c.895_896fs
1 paper
NM_000444.6
p.K299fs
c.895_896fs
3 papers
NM_000444.6
p.M300delFs
c.898delA
4 papers
NM_000444.6
p.K299_M300delFs
c.897_898delAA
2 papers
NM_000444.6
p.L305P
c.914T>C
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."