Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.W186*

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
4 papers
NM_000478.6
p.W186*
c.558G>A
Surrounding Variants
1 paper
NM_000478.6
p.W186C
c.558G>T
3 papers
NM_000478.6
p.W186*
c.557G>A
2 papers
NM_000478.6
p.Y187C
c.560A>G
3 papers
NM_000478.6
p.W186R
c.556T>C
1 paper
NM_000478.6
p.W186fs
c.556_557fs
1 paper
NM_000478.6
p.D185delFs
c.555delC
1 paper
NM_000478.6
p.D185_Y187Fs
c.554_559delinsTGTGFs
8 papers
NM_000478.6
p.S188P
c.562T>C
1 paper
NM_000478.6
p.S188L
c.563C>T
10 papers
NM_000478.6
p.R184Q
c.551G>A
3 papers
NM_000478.6
p.D189N
c.565G>A
6 papers
NM_000478.6
p.N190del1
c.568_570delAAC
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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."