Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P292T

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
8 papers
NM_000478.6
p.P292T
c.874C>A
Surrounding Variants
2 papers
NM_000478.6
p.P292S
c.874C>T
3 papers
NM_000478.6
p.P292L
c.875C>T
1 paper
NM_000478.6
p.P292_D294del0
c.876_881del6
3 papers
NM_000478.6
p.P292_D294delins
c.875_881delinsT
6 papers
NM_000478.6
p.P292P
c.876A>C
20 papers
NM_000478.6
p.P292P
c.876A>G
1 paper
NM_000478.6
p.P292_D294delins
c.876_882delinsT
19 papers
NM_000478.6
p.E291K
c.871G>A
3 papers
NM_000478.6
p.E291Q
c.871G>C
6 papers
NM_000478.6
p.E291*
c.871G>T
2 papers
NM_000478.6
p.F290L
c.870C>A
2 papers
NM_000478.6
p.F290L
c.870C>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."