Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.F129F

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.F129F
c.387C>T
Surrounding Variants
1 paper
NM_001632.5
p.G127S
c.379G>A
1 paper
NM_001632.5
p.G124fs
c.370_371fs
1 paper
NM_001632.5
p.A137P
c.409G>C
1 paper
NM_001632.5
p.F140_N141del1
c.419_421delTTA
1 paper
NM_001632.5
p.N141I
c.422A>T
1 paper
NM_001632.5
p.Q142delFs
c.424delC
1 paper
NM_001632.5
p.Q142fs
c.424_425fs
2 papers
NM_001632.5
p.Q142H
c.426G>C
1 paper
NM_001632.5
p.A116T
c.346G>A
2 papers
NM_001632.5
p.G148R
c.442G>C
1 paper
NM_001632.5
p.E150K
c.448G>A
3 papers
NM_001632.5
p.T104P
c.310A>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."