Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E298K

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
15 papers
NM_000478.6
p.E298K
c.892G>A
Surrounding Variants
5 papers
NM_000478.6
p.Y297*
c.891C>A
3 papers
NM_000478.6
p.Y297*
c.891C>G
1 paper
NM_000478.6
p.Y297N
c.889T>A
1 paper
NM_000478.6
p.Y297H
c.889T>C
4 papers
NM_000478.6
p.Y297D
c.889T>G
9 papers
NM_000478.6
p.L299P
c.896T>C
1 paper
NM_000478.6
p.Q296*
c.886C>T
2 papers
NM_000478.6
p.M295I
c.885G>A
1 paper
NM_000478.6
p.M295I
c.885G>C
1 paper
NM_000478.6
p.M295I
c.885G>T
5 papers
NM_000478.6
p.M295T
c.884T>C
5 papers
NM_000478.6
p.M295V
c.883A>G
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."