Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D356N

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.D356N
c.1066G>A
Surrounding Variants
1 paper
NM_000478.6
p.D356G
c.1067A>G
3 papers
NM_000478.6
p.M355I
c.1065G>A
3 papers
NM_000478.6
p.M355I
c.1065G>C
3 papers
NM_000478.6
p.M355I
c.1065G>T
2 papers
NM_000478.6
p.D356E
c.1068C>A
2 papers
NM_000478.6
p.D356E
c.1068C>G
2 papers
NM_000478.6
p.M355T
c.1064T>C
2 papers
NM_000478.6
p.R357W
c.1069C>T
2 papers
NM_000478.6
p.R357Q
c.1070G>A
2 papers
NM_000478.6
p.E354D
c.1062G>C
3 papers
NM_000478.6
p.R357L
c.1070G>T
2 papers
NM_000478.6
p.E354D
c.1062G>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."