Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N124S

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
4 papers
NM_000478.6
p.N124S
c.371A>G
Surrounding Variants
1 paper
NM_000478.6
p.N124D
c.370A>G
1 paper
NM_000478.6
p.E125K
c.373G>A
3 papers
NM_000478.6
p.A123D
c.368C>A
1 paper
NM_000478.6
p.T127A
c.379A>G
1 paper
NM_000478.6
p.K122delFs
c.364_365delAA
1 paper
NM_000478.6
p.T127I
c.380C>T
4 papers
NM_000478.6
p.V121M
c.361G>A
16 papers
NM_000478.6
p.V128M
c.382G>A
2 papers
NM_000478.6
p.G120A
c.359G>C
2 papers
NM_000478.6
p.G120V
c.359G>T
3 papers
NM_000478.6
p.V130insFs
c.388_389insG
10 papers
NM_000478.6
p.G120R
c.358G>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."