Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P409S

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.P409S
c.1225C>T
Surrounding Variants
3 papers
NM_000478.6
p.P409A
c.1225C>G
2 papers
NM_000478.6
p.F410L
c.1228T>C
1 paper
NM_000478.6
p.K407K
c.1221G>A
1 paper
NM_000478.6
p.F410S
c.1229T>C
1 paper
NM_000478.6
p.F410L
c.1230C>A
1 paper
NM_000478.6
p.F410L
c.1230C>G
8 papers
NM_000478.6
p.T411A
c.1231A>G
1 paper
NM_000478.6
p.K408del1
c.1222_1224delAAG
13 papers
NM_000478.6
p.D406G
c.1217A>G
3 papers
NM_000478.6
p.D406N
c.1216G>A
1 paper
NM_000478.6
p.A412P
c.1234G>C
1 paper
NM_000478.6
p.A412_I413insC
c.1234_1238ins3
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."