Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.I644fs

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.I644fs
c.1930_1931fs
Surrounding Variants
1 paper
NM_000444.6
p.I644fs
c.1930_1931fs
1 paper
NM_000444.6
p.I644V
c.1930A>G
3 papers
NM_000444.6
p.N643delFs
c.1929delT
1 paper
NM_000444.6
p.N643fs
c.1927_1928fs
1 paper
NM_000444.6
p.N643fs
c.1927_1928fs
2 papers
NM_000444.6
p.A645T
c.1933G>A
1 paper
NM_000444.6
p.A645S
c.1933G>T
2 papers
NM_000444.6
p.A645_D646insFs
c.1935_1938dup4
4 papers
NM_000444.6
p.D646del1
c.1936_1938delGAT
2 papers
NM_000444.6
p.N643_I644insFs
c.1929_1930ins4
3 papers
NM_000444.6
p.N647insFs
c.1939_1940ins4
1 paper
NM_000444.6
p.D646delFs
c.1936delG
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