Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Q106H

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
7 papers
NM_000478.6
p.Q106H
c.318G>T
Surrounding Variants
9 papers
NM_000478.6
p.Q106H
c.318G>C
1 paper
NM_000478.6
p.Q106R
c.317A>G
5 papers
NM_000478.6
p.V107I
c.319G>A
1 paper
NM_000478.6
p.V107D
c.320T>A
2 papers
NM_000478.6
p.A105D
c.314C>A
2 papers
NM_000478.6
p.A105V
c.314C>T
11 papers
NM_000478.6
p.P108L
c.323C>T
3 papers
NM_000478.6
p.N104S
c.311A>G
4 papers
NM_000478.6
p.D109E
c.327C>A
3 papers
NM_000478.6
p.D109E
c.327C>G
1 paper
NM_000478.6
p.S110_A111insPA
c.328_332ins6
1 paper
NM_000478.6
p.S110N
c.329G>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."