Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.P25L

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
7 papers
NM_001632.5
p.P25L
c.74C>T
Surrounding Variants
4 papers
NM_001632.5
p.L17_L19del3
c.49_56del9
7 papers
NM_001632.5
p.L13del1
c.37_38delCTG
1 paper
NM_001632.5
p.L12_L13del0
c.34_39del6
5 papers
NM_001632.5
p.M6_L7del2
c.16_20del6
1 paper
NM_001632.5
p.C5G
c.13T>G
5 papers
NM_001632.5
p.L2_G3delFs
c.6_7delGG
1 paper
NM_001632.5
p.M1I
c.3G>A
1 paper
NM_001632.5
p.M1I
c.3G>C
1 paper
NM_001632.5
p.M1I
c.3G>T
1 paper
NM_001632.5
p.E27Q
c.79G>C
2 papers
NM_001632.5
p.E27E
c.81G>A
2 papers
NM_001632.5
p.P31P
c.93G>A
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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."