Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.C201Y

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
12 papers
NM_000478.6
p.C201Y
c.602G>A
Surrounding Variants
5 papers
NM_000478.6
p.C201R
c.601T>C
4 papers
NM_000478.6
p.G200D
c.599G>A
2 papers
NM_000478.6
p.D203E
c.609C>A
2 papers
NM_000478.6
p.D203E
c.609C>G
1 paper
NM_000478.6
p.Q199*
c.595C>T
1 paper
NM_000478.6
p.I204N
c.611T>A
7 papers
NM_000478.6
p.A205T
c.613G>A
1 paper
NM_000478.6
p.A205V
c.614C>T
1 paper
NM_000478.6
p.A196V
c.587C>T
1 paper
NM_000478.6
p.A196T
c.586G>A
1 paper
NM_000478.6
p.Q207E
c.619C>G
1 paper
NM_001127501.4
p.E140E
c.420G>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."