Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V314E

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.V314E
c.941T>A
Surrounding Variants
1 paper
NM_000478.6
p.I317L
c.949A>C
6 papers
NM_000478.6
p.E311K
c.931G>A
2 papers
NM_000478.6
p.Q318R
c.953A>G
1 paper
NM_000478.6
p.S310P
c.928T>C
2 papers
NM_000478.6
p.S310fs
c.928_929fs
4 papers
NM_000478.6
p.S310fs
c.928_929fs
2 papers
NM_000478.6
p.I319F
c.955A>T
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.L309P
c.926T>C
1 paper
NM_000478.6
p.I319M
c.957C>G
4 papers
NM_000478.6
p.S310delFs
c.928_929delTC
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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."