Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.D406N

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
1 paper
NM_001632.5
p.D406N
c.1216G>A
Surrounding Variants
1 paper
NM_001632.5
p.D406_R407delFs
c.1216_1219del4
1 paper
NM_001632.5
p.A404D
c.1211C>A
1 paper
NM_001632.5
p.T411A
c.1231A>G
2 papers
NM_001632.5
p.G398Splc
c.1193-3C>A
1 paper
NM_001632.5
p.N417S
c.1250A>G
1 paper
NM_001632.5
p.P419_Y421del3
c.1255_1262del9
2 papers
NM_001632.5
p.P419delFs
c.1256delC
1 paper
NM_001632.5
p.P419fs
c.1255_1256fs
1 paper
NM_001632.5
p.G420S
c.1258G>A
1 paper
NM_001632.5
p.G420A
c.1259G>C
1 paper
NM_001632.5
p.G426S
c.1276G>A
2 papers
NM_001632.5
p.G426C
c.1276G>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."