Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.K322R

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.K322R
c.965A>G
Surrounding Variants
1 paper
NM_000478.6
p.K322fs
c.964_965fs
2 papers
NM_000478.6
p.K322fs
c.964_965fs
2 papers
NM_000478.6
p.N323D
c.967A>G
1 paper
NM_000478.6
p.N323I
c.968A>T
1 paper
NM_000478.6
p.N323K
c.969C>A
1 paper
NM_000478.6
p.N323K
c.969C>G
4 papers
NM_000478.6
p.R321W
c.961C>T
4 papers
NM_000478.6
p.R321delFs
c.962delG
1 paper
NM_000478.6
p.P324R
c.971C>G
1 paper
NM_000478.6
p.P324L
c.971C>T
1 paper
NM_000478.6
p.I319M
c.957C>G
2 papers
NM_000478.6
p.I319F
c.955A>T
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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."