Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S463P

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.S463P
c.1387T>C
Surrounding Variants
1 paper
NM_000478.6
p.S463A
c.1387T>G
3 papers
NM_000478.6
p.S463Y
c.1388C>A
6 papers
NM_000478.6
p.V461I
c.1381G>A
1 paper
NM_000478.6
p.A460V
c.1379C>T
1 paper
NM_000478.6
p.A460T
c.1378G>A
2 papers
NM_000478.6
p.P466L
c.1397C>T
4 papers
NM_000478.6
p.V459A
c.1376T>C
1 paper
NM_000478.6
p.M467V
c.1399A>G
14 papers
NM_000478.6
p.V459M
c.1375G>A
4 papers
NM_000478.6
p.V459L
c.1375G>C
4 papers
NM_000478.6
p.V459L
c.1375G>T
6 papers
NM_000478.6
p.M467T
c.1400T>C
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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."