Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.F328L

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.F328L
c.984C>A
Surrounding Variants
4 papers
NM_000478.6
p.F328L
c.984C>G
5 papers
NM_000478.6
p.F328L
c.982T>C
54 papers
NM_000478.6
p.F327L
c.981C>A
55 papers
NM_000478.6
p.F327L
c.981C>G
7 papers
NM_000478.6
p.F327C
c.980T>G
69 papers
NM_000478.6
p.F327L
c.979T>C
1 paper
NM_000478.6
p.F327delins
c.979_980delinsGG
1 paper
NM_000478.6
p.V331M
c.991G>A
2 papers
NM_000478.6
p.V331_E332ins6
c.991_995ins18
7 papers
NM_000478.6
p.G326V
c.977G>T
31 papers
NM_000478.6
p.F328del1
c.982_983delTTC
6 papers
NM_000478.6
p.G326R
c.976G>C
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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."