Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P307L

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
17 papers
NM_000478.6
p.P307L
c.920C>T
Surrounding Variants
1 paper
NM_000478.6
p.P307delFs
c.921delG
3 papers
NM_000478.6
p.P307S
c.919C>T
1 paper
NM_000478.6
p.S308fs
c.922_923fs
13 papers
NM_000478.6
p.D306V
c.917A>T
1 paper
NM_000478.6
p.S308*
c.923C>A
1 paper
NM_000478.6
p.S308*
c.923C>G
4 papers
NM_000478.6
p.S310delFs
c.928_929delTC
1 paper
NM_000478.6
p.D306N
c.916G>A
1 paper
NM_000478.6
p.L309P
c.926T>C
1 paper
NM_000478.6
p.L309L
c.927C>A
1 paper
NM_000478.6
p.S310insFs
c.928dupT
1 paper
NM_000478.6
p.S310P
c.928T>C
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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."