Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R223Q

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
25 papers
NM_000478.6
p.R223Q
c.668G>A
Surrounding Variants
20 papers
NM_000478.6
p.R223W
c.667C>T
7 papers
NM_000478.6
p.K224E
c.670A>G
1 paper
NM_000478.6
p.G222fs
c.664_665fs
2 papers
NM_000478.6
p.Y225H
c.673T>C
1 paper
NM_000478.6
p.M226insFs
c.676_677insCA
1 paper
NM_000478.6
p.Y225delFs
c.675delC
3 papers
NM_000478.6
p.G221V
c.662G>T
1 paper
NM_000478.6
p.Y225*
c.675C>A
2 papers
NM_000478.6
p.Y225_M226insFs
c.675_676insCA
1 paper
NM_000478.6
p.Y225*
c.675C>G
11 papers
NM_000478.6
p.G221R
c.661G>C
1 paper
NM_000478.6
p.G221fs
c.661_662fs
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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."