Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S432A

ALPL

761 papers

RefSeq Summary

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kid...

Pfam Domains

Alk_phosphataseaa 51–490UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, biomineralization associated

HGNC Previous Symbol

HOPS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000478.6
p.S432A
c.1294T>G
Surrounding Variants
1 paper
NM_000478.6
p.S432P
c.1294T>C
2 papers
NM_000478.6
p.V431D
c.1292T>A
6 papers
NM_000478.6
p.V431A
c.1292T>C
8 papers
NM_000478.6
p.N430S
c.1289A>G
3 papers
NM_000478.6
p.N430D
c.1288A>G
1 paper
NM_000478.6
p.V434M
c.1300G>A
1 paper
NM_000478.6
p.E429D
c.1287G>C
2 papers
NM_000478.6
p.E429D
c.1287G>T
3 papers
NM_000478.6
p.V434G
c.1301T>G
4 papers
NM_000478.6
p.E429K
c.1285G>A
1 paper
NM_000478.6
p.D435G
c.1304A>G
6 papers
NM_000478.6
p.R428Q
c.1283G>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."