Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.T5_G6delFs

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
4 papers
NM_000444.6
p.T5_G6delFs
c.15_16delAG
Surrounding Variants
2 papers
NM_000444.6
p.T5insFs
c.15dupA
1 paper
NM_000444.6
p.T5I
c.14C>T
2 papers
NM_000444.6
p.G6delFs
c.16_17delGG
1 paper
NM_000444.6
p.G6del1
c.16_18delGGG
1 paper
NM_000444.6
p.E4delins
c.12delinsCTACCTAACTGAG
2 papers
NM_000444.6
p.E4Fs
c.12delinsCTACCTAACTGAGATFs
1 paper
NM_000444.6
p.G6fs
c.16_17fs
3 papers
NM_000444.6
p.G6fs
c.16_17fs
2 papers
NM_000444.6
p.S7insFs
c.20_21insAG
2 papers
NM_000444.6
p.G6_S7delFs
c.18_21del4
6 papers
NM_000444.6
p.E4Q
c.10G>C
1 paper
NM_000444.6
p.E4insFs
c.11dupA
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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."