Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R213K

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.R213K
c.638G>A
Surrounding Variants
1 paper
NM_000478.6
p.D214insFs
c.641dupA
1 paper
NM_000478.6
p.D214A
c.641A>C
2 papers
NM_000478.6
p.I212F
c.634A>T
3 papers
NM_000478.6
p.I215V
c.643A>G
1 paper
NM_000478.6
p.I215N
c.644T>A
2 papers
NM_000478.6
p.I215T
c.644T>C
2 papers
NM_000478.6
p.N211D
c.631A>G
6 papers
NM_000478.6
p.H210R
c.629A>G
1 paper
NM_000478.6
p.D216E
c.648C>A
1 paper
NM_000478.6
p.D216E
c.648C>G
1 paper
NM_000478.6
p.H210Y
c.628C>T
27 papers
NM_000478.6
p.D216_V217Splc
c.648+1G>A
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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."