Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.R75S

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.R75S
c.225G>C
Surrounding Variants
1 paper
NM_001632.5
p.R75S
c.225G>T
1 paper
NM_001632.5
p.T70M
c.209C>T
2 papers
NM_001632.5
p.M66L
c.196A>T
1 paper
NM_001632.5
p.G65Splc
c.194-3C>T
6 papers
NM_001632.5
p.I89L
c.265A>C
6 papers
NM_001632.5
p.I89L
c.265A>T
1 paper
NM_001632.5
p.D94N
c.280G>A
1 paper
NM_001632.5
p.R95G
c.283C>G
1 paper
NM_001632.5
p.F61I
c.181T>A
1 paper
NM_001632.5
p.L58F
c.172C>T
1 paper
NM_001632.5
p.K46E
c.136A>G
1 paper
NM_001632.5
p.A45T
c.133G>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."