Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V522G

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.V522G
c.1565T>G
Surrounding Variants
25 papers
NM_000478.6
p.V522A
c.1565T>C
1 paper
NM_000478.6
p.V522I
c.1564G>A
2 papers
NM_000478.6
p.S521R
c.1563C>A
2 papers
NM_000478.6
p.S521R
c.1563C>G
1 paper
NM_000478.6
p.S521S
c.1563C>T
2 papers
NM_000478.6
p.S521R
c.1561A>C
2 papers
NM_000478.6
p.L520R
c.1559T>G
1 paper
NM_000478.6
p.F524insFs
c.1571_1572insC
7 papers
NM_000478.6
p.L520fs
c.1558_1559fs
98 papers
NM_000478.6
p.L520delFs
c.1559delT
12 papers
NM_000478.6
p.L520fs
c.1558_1559fs
1 paper
NM_000478.6
p.L520delFs
c.1558_1559delCT
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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."