Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.G252A

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.G252A
c.755G>C
Surrounding Variants
1 paper
NM_001632.5
p.L255L
c.763C>T
2 papers
NM_001632.5
p.S244G
c.730A>G
1 paper
NM_001632.5
p.A261E
c.782C>A
2 papers
NM_001632.5
p.R263C
c.787C>T
3 papers
NM_001632.5
p.R263H
c.788G>A
1 paper
NM_001632.5
p.Q264L
c.791A>T
1 paper
NM_001632.5
p.P235L
c.704C>T
1 paper
NM_001632.5
p.G233G
c.699A>G
1 paper
NM_001632.5
p.M232I
c.696G>A
1 paper
NM_001632.5
p.M232I
c.696G>C
1 paper
NM_001632.5
p.M232I
c.696G>T
8 papers
NM_001632.5
p.R231P
c.692G>C
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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."