Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H482Q

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
3 papers
NM_000478.6
p.H482Q
c.1446C>A
Surrounding Variants
3 papers
NM_000478.6
p.H482Q
c.1446C>G
1 paper
NM_000478.6
p.H482insFs
c.1445_1446insC
2 papers
NM_000478.6
p.V483M
c.1447G>A
8 papers
NM_000478.6
p.H482N
c.1444C>A
2 papers
NM_000478.6
p.H482Y
c.1444C>T
1 paper
NM_000478.6
p.M484T
c.1451T>C
5 papers
NM_000478.6
p.H482insFs
c.1444dupC
1 paper
NM_000478.6
p.A485V
c.1454C>T
1 paper
NM_000478.6
p.V480I
c.1438G>A
4 papers
NM_000478.6
p.Y479C
c.1436A>G
9 papers
NM_000478.6
p.N478I
c.1433A>T
6 papers
NM_000478.6
p.A487V
c.1460C>T
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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."