Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E476Q

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.E476Q
c.1426G>C
Surrounding Variants
20 papers
NM_000478.6
p.E476K
c.1426G>A
NM_001177520.3
p.E399K
c.1195G>A
7 papers
NM_000478.6
p.E476A
c.1427A>C
2 papers
NM_000478.6
p.E476G
c.1427A>G
9 papers
NM_000478.6
p.N478I
c.1433A>T
4 papers
NM_000478.6
p.G473D
c.1418G>A
12 papers
NM_000478.6
p.G473S
c.1417G>A
4 papers
NM_000478.6
p.Y479C
c.1436A>G
4 papers
NM_000478.6
p.H472R
c.1415A>G
3 papers
NM_000478.6
p.H472Y
c.1414C>T
1 paper
NM_000478.6
p.V480I
c.1438G>A
5 papers
NM_000478.6
p.H482insFs
c.1444dupC
2 papers
NM_000478.6
p.L471_Q477del0
c.1412_1429del18
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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."