Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N230D

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.N230D
c.688A>G
Surrounding Variants
2 papers
NM_000478.6
p.K231R
c.692A>G
1 paper
NM_000478.6
p.D233H
c.697G>C
3 papers
NM_000478.6
p.M226I
c.678G>A
3 papers
NM_000478.6
p.M226I
c.678G>C
3 papers
NM_000478.6
p.M226I
c.678G>T
26 papers
NM_000478.6
p.M226T
c.677T>C
1 paper
NM_000478.6
p.V234insFs
c.701dupT
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
1 paper
NM_000478.6
p.Y225delFs
c.675delC
2 papers
NM_000478.6
p.Y225H
c.673T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."