Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.G204R

ALPP

186 papers

RefSeq Summary

The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline pho...

Pfam Domains

Alk_phosphataseaa 55–490UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, placental

HGNC Alias Symbols

PALP; PLAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001632.5
p.G204R
c.610G>A
Surrounding Variants
2 papers
NM_001632.5
p.G204R
c.610G>C
1 paper
NM_001632.5
p.Q206H
c.618G>C
1 paper
NM_001632.5
p.Q206H
c.618G>T
1 paper
NM_001632.5
p.A209T
c.625G>A
1 paper
NM_001632.5
p.A198V
c.593C>T
1 paper
NM_001632.5
p.T210M
c.629C>T
1 paper
NM_001632.5
p.Q211*
c.631C>T
1 paper
NM_001632.5
p.V196M
c.586G>A
2 papers
NM_001632.5
p.S192W
c.575C>G
1 paper
NM_001632.5
p.Y191H
c.571T>C
1 paper
NM_001632.5
p.D219D
c.657C>T
1 paper
NM_001632.5
p.T181I
c.542C>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."