Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.M1I

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_001127501.4
p.M1I
c.3G>C
Surrounding Variants
1 paper
NM_001127501.4
p.M1I
c.3G>A
1 paper
NM_001127501.4
p.M1I
c.3G>T
1 paper
NM_000478.6
p.L58fs
c.172_173fs
1 paper
NM_000478.6
p.I55T
c.164T>C
1 paper
NM_000478.6
p.I55V
c.163A>G
1 paper
NM_000478.6
p.L58P
c.173T>C
5 papers
NM_000478.6
p.G59E
c.176G>A
1 paper
NM_000478.6
p.V54I
c.160G>A
8 papers
NM_000478.6
p.G59G
c.177A>T
1 paper
NM_000478.6
p.N53K
c.159T>A
1 paper
NM_000478.6
p.N53K
c.159T>G
1 paper
NM_000478.6
p.D60N
c.178G>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."