Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N440K

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
1 paper
NM_000478.6
p.N440K
c.1320C>G
Surrounding Variants
1 paper
NM_000478.6
p.N440K
c.1320C>A
2 papers
NM_000478.6
p.Y441*
c.1323C>A
2 papers
NM_000478.6
p.Y441*
c.1323C>G
1 paper
NM_000478.6
p.N440_Q442insFs
c.1319_1325dup7
1 paper
NM_000478.6
p.Q442*
c.1324C>T
1 paper
NM_000478.6
p.N439Y
c.1315A>T
2 papers
NM_000478.6
p.H438L
c.1313A>T
4 papers
NM_000478.6
p.A443T
c.1327G>A
2 papers
NM_000478.6
p.A443S
c.1327G>T
1 paper
NM_000478.6
p.A443E
c.1328C>A
2 papers
NM_000478.6
p.A443G
c.1328C>G
18 papers
NM_000478.6
p.A443V
c.1328C>T
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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."