Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.V25fs

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.V25fs
c.73_74fs
Surrounding Variants
2 papers
NM_000444.6
p.F26delFs
c.77_78delTT
1 paper
NM_000444.6
p.F26fs
c.76_77fs
2 papers
NM_000444.6
p.F26fs
c.76_77fs
1 paper
NM_000444.6
p.V24_V25delFs
c.70_74del5
1 paper
NM_000444.6
p.L23P
c.68T>C
2 papers
NM_000444.6
p.L23delFs
c.68delT
2 papers
NM_000444.6
p.L23fs
c.67_68fs
2 papers
NM_000444.6
p.V27_G28insA
c.79_83ins3
2 papers
NM_000444.6
p.L23_V25delFs
c.67_74del8
2 papers
NM_000444.6
p.G28delFs
c.83delG
2 papers
NM_000444.6
p.G28S
c.82G>A
7 papers
NM_000444.6
p.A22S
c.64G>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."