Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G221insFs

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.G221insFs
c.662_663insG
Surrounding Variants
1 paper
NM_000478.6
p.M219T
c.656T>C
4 papers
NM_000478.6
p.G221delFs
c.662delG
8 papers
NM_000478.6
p.M219V
c.655A>G
1 paper
NM_000478.6
p.M219_G220delFs
c.656_659del4
8 papers
NM_000478.6
p.M219I
c.657G>A
7 papers
NM_000478.6
p.M219I
c.657G>C
9 papers
NM_000478.6
p.M219I
c.657G>T
3 papers
NM_000478.6
p.G220R
c.658G>A
3 papers
NM_000478.6
p.G220R
c.658G>C
13 papers
NM_000478.6
p.G220A
c.659G>C
7 papers
NM_000478.6
p.G220V
c.659G>T
4 papers
NM_000478.6
p.I218T
c.653T>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."