Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.T389insFs

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.T389insFs
c.1166dupC
Surrounding Variants
1 paper
NM_000478.6
p.T389fs
c.1165_1166fs
1 paper
NM_000478.6
p.T389A
c.1165A>G
9 papers
NM_000478.6
p.R391delFs
c.1171delC
7 papers
NM_000478.6
p.T389N
c.1166C>A
2 papers
NM_000478.6
p.Y388C
c.1163A>G
13 papers
NM_000478.6
p.Y388H
c.1162T>C
1 paper
NM_000478.6
p.Y388_T389insG
c.1162_1166ins3
1 paper
NM_000478.6
p.G387G
c.1161A>G
1 paper
NM_000478.6
p.R391fs
c.1171_1172fs
32 papers
NM_000478.6
p.R391C
c.1171C>T
10 papers
NM_000478.6
p.R391fs
c.1171_1172fs
1 paper
NM_000478.6
p.G387R
c.1159G>A
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."