Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H341R

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
5 papers
NM_000478.6
p.H341R
c.1022A>G
Surrounding Variants
1 paper
NM_000478.6
p.H341L
c.1022A>T
4 papers
NM_000478.6
p.H341Q
c.1023T>A
3 papers
NM_000478.6
p.H341Q
c.1023T>G
1 paper
NM_000478.6
p.E342*
c.1024G>T
1 paper
NM_000478.6
p.E342delins
c.1024_1025delinsTT
1 paper
NM_000478.6
p.H340P
c.1019A>C
1 paper
NM_000478.6
p.E342G
c.1025A>G
1 paper
NM_000478.6
p.E342V
c.1025A>T
3 papers
NM_000478.6
p.H340Y
c.1018C>T
1 paper
NM_000478.6
p.H340fs
c.1018_1019fs
1 paper
NM_000478.6
p.G339E
c.1016G>A
13 papers
NM_000478.6
p.G339R
c.1015G>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."