Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.Q311*

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
7 papers
NM_000444.6
p.Q311*
c.931C>T
Surrounding Variants
1 paper
NM_000444.6
p.Q311fs
c.931_932fs
3 papers
NM_000444.6
p.Q311fs
c.931_932fs
1 paper
NM_000444.6
p.P310S
c.928C>T
2 papers
NM_000444.6
p.P310fs
c.928_929fs
6 papers
NM_000444.6
p.Q311_F312Splc
c.933+1G>A
1 paper
NM_000444.6
p.Q311_F312Splc
c.933+1G>C
4 papers
NM_000444.6
p.Q311_F312Splc
c.933+1G>T
1 paper
NM_000444.6
p.Q311_F312Splc
c.933+2T>A
3 papers
NM_000444.6
p.Q311insFs
c.931dupC
2 papers
NM_000444.6
p.M308_I309insFs
c.924_927dup4
1 paper
NM_000444.6
p.A307T
c.919G>A
1 paper
NM_000444.6
p.S306delFs
c.917delG
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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."