Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.A552T

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.A552T
c.1654G>A
Surrounding Variants
1 paper
NM_000444.6
p.A552G
c.1655C>G
1 paper
NM_000444.6
p.G553R
c.1657G>A
2 papers
NM_000444.6
p.G553*
c.1657G>T
3 papers
NM_000444.6
p.G553E
c.1658G>A
1 paper
NM_000444.6
p.F550_P551Fs
c.1650_1652delinsAGGGTFs
1 paper
NM_000444.6
p.E554*
c.1660G>T
5 papers
NM_000444.6
p.R549P
c.1646G>C
3 papers
NM_000444.6
p.R549fs
c.1645_1646fs
1 paper
NM_000444.6
p.R549Splc
c.1646-1G>A
2 papers
NM_000444.6
p.R549Splc
c.1646-1G>C
1 paper
NM_000444.6
p.R549Splc
c.1646-2A>G
3 papers
NM_000444.6
p.R549Splc
c.1646-2A>T
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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."