Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P419delFs

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
20 papers
NM_000478.6
p.P419delFs
c.1256delC
Surrounding Variants
1 paper
NM_000478.6
p.G418E
c.1253G>A
1 paper
NM_000478.6
p.G418R
c.1252G>A
44 papers
NM_000478.6
p.N417S
c.1250A>G
11 papers
NM_000478.6
p.G420S
c.1258G>A
1 paper
NM_000478.6
p.N417D
c.1249A>G
3 papers
NM_000478.6
p.G420D
c.1259G>A
10 papers
NM_000478.6
p.G420A
c.1259G>C
2 papers
NM_000478.6
p.G420V
c.1259G>T
1 paper
NM_000478.6
p.G416D
c.1247G>A
3 papers
NM_000478.6
p.G416V
c.1247G>T
1 paper
NM_001177520.3
p.G339R
c.1015G>C
3 papers
NM_000478.6
p.K422R
c.1265A>G
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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."