Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R428Q

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
6 papers
NM_000478.6
p.R428Q
c.1283G>A
Surrounding Variants
5 papers
NM_000478.6
p.R428P
c.1283G>C
13 papers
NM_000478.6
p.R428*
c.1282C>T
4 papers
NM_000478.6
p.E429K
c.1285G>A
2 papers
NM_000478.6
p.E427Q
c.1279G>C
1 paper
NM_000478.6
p.E429D
c.1287G>C
2 papers
NM_000478.6
p.E429D
c.1287G>T
3 papers
NM_000478.6
p.N430D
c.1288A>G
8 papers
NM_000478.6
p.N430S
c.1289A>G
7 papers
NM_000478.6
p.G426D
c.1277G>A
1 paper
NM_000478.6
p.G426A
c.1277G>C
16 papers
NM_000478.6
p.G426S
c.1276G>A
9 papers
NM_000478.6
p.G426C
c.1276G>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."