Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D378Y

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
4 papers
NM_000478.6
p.D378Y
c.1132G>T
Surrounding Variants
5 papers
NM_000478.6
p.D378H
c.1132G>C
4 papers
NM_000478.6
p.D378G
c.1133A>G
54 papers
NM_000478.6
p.D378V
c.1133A>T
14 papers
NM_000478.6
p.A377V
c.1130C>T
3 papers
NM_000478.6
p.H379N
c.1135C>A
1 paper
NM_000478.6
p.H379Y
c.1135C>T
1 paper
NM_000478.6
p.A377T
c.1129G>A
10 papers
NM_000478.6
p.H381R
c.1142A>G
21 papers
NM_000478.6
p.V382I
c.1144G>A
12 papers
NM_000478.6
p.V374M
c.1120G>A
1 paper
NM_000478.6
p.V382L
c.1144G>C
1 paper
NM_000478.6
p.V382D
c.1145T>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."