Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A114P

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.A114P
c.340G>C
Surrounding Variants
13 papers
NM_000478.6
p.A114T
c.340G>A
1 paper
NM_000478.6
p.A114S
c.340G>T
2 papers
NM_000478.6
p.A114G
c.341C>G
4 papers
NM_000478.6
p.A114V
c.341C>T
1 paper
NM_000478.6
p.A114A
c.342C>G
2 papers
NM_000478.6
p.T115A
c.343A>G
3 papers
NM_000478.6
p.T115I
c.344C>T
1 paper
NM_000478.6
p.G112A
c.335G>C
3 papers
NM_000478.6
p.T115_A116ins0
c.343_348dup6
1 paper
NM_000478.6
p.T113_A116del4
c.337_347del12
59 papers
NM_000478.6
p.A116T
c.346G>A
7 papers
NM_000478.6
p.G112S
c.334G>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."