Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.E27Q

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.E27Q
c.79G>C
Surrounding Variants
2 papers
NM_001632.5
p.E27E
c.81G>A
2 papers
NM_001632.5
p.P31P
c.93G>A
1 paper
NM_001632.5
p.E37_A39del3
c.109_116del9
3 papers
NM_001632.5
p.E37Q
c.109G>C
1 paper
NM_001632.5
p.A38T
c.112G>A
1 paper
NM_001632.5
p.A44G
c.131C>G
1 paper
NM_001632.5
p.A45T
c.133G>A
1 paper
NM_001632.5
p.K46E
c.136A>G
1 paper
NM_001632.5
p.L58F
c.172C>T
7 papers
NM_001632.5
p.P25L
c.74C>T
1 paper
NM_001632.5
p.F61I
c.181T>A
4 papers
NM_001632.5
p.L17_L19del3
c.49_56del9
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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."