Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.Y104delFs

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.Y104delFs
c.310delT
Surrounding Variants
2 papers
NM_000444.6
p.V103fs
c.307_308fs
1 paper
NM_000444.6
p.G102E
c.305G>A
5 papers
NM_000444.6
p.G102R
c.304G>A
5 papers
NM_000444.6
p.G102R
c.304G>C
1 paper
NM_000444.6
p.G102W
c.304G>T
1 paper
NM_000444.6
p.Y104fs
c.310_311fs
1 paper
NM_000444.6
p.Y104fs
c.310_311fs
2 papers
NM_000444.6
p.V103delFs
c.307delG
1 paper
NM_000444.6
p.W106delFs
c.316delT
1 paper
NM_000444.6
p.W106fs
c.316_317fs
3 papers
NM_000444.6
p.W106*
c.317G>A
2 papers
NM_000444.6
p.W106*
c.318G>A
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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."