Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.C77W

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.C77W
c.231T>G
Surrounding Variants
4 papers
NM_000444.6
p.C77Y
c.230G>A
11 papers
NM_000444.6
p.C77S
c.230G>C
2 papers
NM_000444.6
p.C77F
c.230G>T
10 papers
NM_000444.6
p.C77S
c.229T>A
3 papers
NM_000444.6
p.C77R
c.229T>C
1 paper
NM_000444.6
p.P76delFs
c.228delT
2 papers
NM_000444.6
p.C77_D78del2
c.229_233del6
1 paper
NM_000444.6
p.P76_F80ins1
c.227_238dup12
3 papers
NM_000444.6
p.F80S
c.239T>C
2 papers
NM_000444.6
p.F81L
c.241T>C
2 papers
NM_000444.6
p.V74fs
c.220_221fs
5 papers
NM_000444.6
p.F81S
c.242T>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."