Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R138P

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
3 papers
NM_000478.6
p.R138P
c.413G>C
Surrounding Variants
2 papers
NM_000478.6
p.R138Q
c.413G>A
1 paper
NM_000478.6
p.R138fs
c.412_413fs
3 papers
NM_000478.6
p.C139Y
c.416G>A
1 paper
NM_000478.6
p.C139C
c.417C>T
1 paper
NM_000478.6
p.N140delFs
c.419delA
1 paper
NM_000478.6
p.S137T
c.409T>A
2 papers
NM_000478.6
p.R138insFs
c.412_413insC
3 papers
NM_000478.6
p.S137delFs
c.410delC
1 paper
NM_000478.6
p.N140D
c.418A>G
72 papers
NM_000478.6
p.R136H
c.407G>A
2 papers
NM_000478.6
p.R136P
c.407G>C
4 papers
NM_000478.6
p.R136L
c.407G>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."