Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D203E

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
2 papers
NM_000478.6
p.D203E
c.609C>G
Surrounding Variants
2 papers
NM_000478.6
p.D203E
c.609C>A
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
12 papers
NM_000478.6
p.C201Y
c.602G>A
5 papers
NM_000478.6
p.C201R
c.601T>C
1 paper
NM_000478.6
p.Q207E
c.619C>G
4 papers
NM_000478.6
p.G200D
c.599G>A
9 papers
NM_000478.6
p.Q207P
c.620A>C
1 paper
NM_000478.6
p.Q207R
c.620A>G
1 paper
NM_000478.6
p.Q207_L208del1
c.621_623delGCT
1 paper
NM_000478.6
p.L208F
c.622C>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."