Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.N71T

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.N71T
c.212A>C
Surrounding Variants
3 papers
NM_000444.6
p.N71I
c.212A>T
1 paper
NM_000444.6
p.S73_V74delFs
c.218_221del4
1 paper
NM_000444.6
p.V70fs
c.208_209fs
4 papers
NM_000444.6
p.V70fs
c.208_209fs
1 paper
NM_000444.6
p.S73P
c.217T>C
1 paper
NM_000444.6
p.S73fs
c.217_218fs
1 paper
NM_000444.6
p.S73C
c.218C>G
2 papers
NM_000444.6
p.S73_V74delFs
c.219_220delTG
3 papers
NM_000444.6
p.K69*
c.205A>T
2 papers
NM_000444.6
p.V74fs
c.220_221fs
1 paper
NM_000444.6
p.S68insFs
c.204dupT
2 papers
NM_000444.6
p.S68delFs
c.204delT
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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."