Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G456A

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.G456A
c.1367G>C
Surrounding Variants
4 papers
NM_000478.6
p.G456E
c.1367G>A
16 papers
NM_000478.6
p.G456R
c.1366G>A
14 papers
NM_000478.6
p.G456R
c.1366G>C
4 papers
NM_000478.6
p.G456W
c.1366G>T
1 paper
NM_000478.6
p.G455G
c.1365C>T
5 papers
NM_000478.6
p.G455D
c.1364G>A
11 papers
NM_000478.6
p.G455S
c.1363G>A
1 paper
NM_000478.6
p.D458N
c.1372G>A
4 papers
NM_000478.6
p.H454R
c.1361A>G
1 paper
NM_000478.6
p.D458V
c.1373A>T
1 paper
NM_000478.6
p.H454Y
c.1360C>T
14 papers
NM_000478.6
p.V459M
c.1375G>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."