Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G648R

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.G648R
c.1942G>A
Surrounding Variants
3 papers
NM_000444.6
p.G648R
c.1942G>C
2 papers
NM_000444.6
p.G648*
c.1942G>T
1 paper
NM_000444.6
p.G649_E652del0
c.1946_1954del9
1 paper
NM_000444.6
p.N647insFs
c.1939_1940insC
2 papers
NM_000444.6
p.N647fs
c.1939_1940fs
1 paper
NM_000444.6
p.G649C
c.1945G>T
4 papers
NM_000444.6
p.G649D
c.1946G>A
2 papers
NM_000444.6
p.D646N
c.1936G>A
3 papers
NM_000444.6
p.D646H
c.1936G>C
1 paper
NM_000444.6
p.D646fs
c.1936_1937fs
2 papers
NM_000444.6
p.D646Y
c.1936G>T
2 papers
NM_000444.6
p.D646fs
c.1936_1937fs
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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."