Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.Q706_I707delFs

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.Q706_I707delFs
c.2118_2119delAA
Surrounding Variants
1 paper
NM_000444.6
p.Q706*
c.2116C>T
1 paper
NM_000444.6
p.Q706fs
c.2116_2117fs
1 paper
NM_000444.6
p.Q704*
c.2110C>T
2 papers
NM_000444.6
p.A709delFs
c.2125delG
1 paper
NM_000444.6
p.A709T
c.2125G>A
2 papers
NM_000444.6
p.A709fs
c.2125_2126fs
1 paper
NM_000444.6
p.R702fs
c.2104_2105fs
28 papers
NM_000444.6
p.R702*
c.2104C>T
2 papers
NM_000444.6
p.R702fs
c.2104_2105fs
1 paper
NM_000444.6
p.H710_Q714insFs
c.2130_2142dup13
1 paper
NM_000444.6
p.S711fs
c.2131_2132fs
11 papers
NM_000444.6
p.S711R
c.2131A>C
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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."