Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N302K

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.N302K
c.906C>G
Surrounding Variants
2 papers
NM_000478.6
p.N302K
c.906C>A
1 paper
NM_000478.6
p.N303_E311del9
c.907_932del27
1 paper
NM_000478.6
p.N303D
c.907A>G
1 paper
NM_000478.6
p.N302fs
c.904_905fs
1 paper
NM_000478.6
p.R301S
c.903G>C
1 paper
NM_000478.6
p.R301S
c.903G>T
1 paper
NM_000478.6
p.N302_S310del9
c.904_929del27
1 paper
NM_000478.6
p.V304M
c.910G>A
1 paper
NM_000478.6
p.V304L
c.910G>C
1 paper
NM_000478.6
p.V304L
c.910G>T
1 paper
NM_000478.6
p.R301W
c.901A>T
1 paper
NM_000478.6
p.R301delFs
c.902delG
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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."