Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.F731fs

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.F731fs
c.2191_2192fs
Surrounding Variants
1 paper
NM_000444.6
p.F731fs
c.2191_2192fs
8 papers
NM_000444.6
p.F731Y
c.2192T>A
6 papers
NM_000444.6
p.F731S
c.2192T>C
1 paper
NM_000444.6
p.F731delFs
c.2193delT
4 papers
NM_000444.6
p.A730S
c.2188G>T
2 papers
NM_000444.6
p.A730delFs
c.2189delC
2 papers
NM_000444.6
p.A730fs
c.2188_2189fs
3 papers
NM_000444.6
p.K729fs
c.2185_2186fs
8 papers
NM_000444.6
p.C733S
c.2197T>A
8 papers
NM_000444.6
p.C733R
c.2197T>C
7 papers
NM_000444.6
p.C733Y
c.2198G>A
9 papers
NM_000444.6
p.C733S
c.2198G>C
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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."