Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A443G

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.A443G
c.1328C>G
Surrounding Variants
1 paper
NM_000478.6
p.A443E
c.1328C>A
18 papers
NM_000478.6
p.A443V
c.1328C>T
4 papers
NM_000478.6
p.A443T
c.1327G>A
2 papers
NM_000478.6
p.A443S
c.1327G>T
2 papers
NM_000478.6
p.Q444R
c.1331A>G
1 paper
NM_000478.6
p.Q442*
c.1324C>T
1 paper
NM_000478.6
p.S445_P448del4
c.1333_1343del12
2 papers
NM_000478.6
p.Y441*
c.1323C>A
2 papers
NM_000478.6
p.Y441*
c.1323C>G
2 papers
NM_000478.6
p.S445T
c.1333T>A
17 papers
NM_000478.6
p.S445P
c.1333T>C
1 paper
NM_000478.6
p.S445C
c.1334C>G
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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."