Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D294E

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.D294E
c.882C>G
Surrounding Variants
1 paper
NM_000478.6
p.D294E
c.882C>A
36 papers
NM_000478.6
p.D294A
c.881A>C
5 papers
NM_000478.6
p.M295V
c.883A>G
1 paper
NM_000478.6
p.D294N
c.880G>A
3 papers
NM_000478.6
p.D294Y
c.880G>T
5 papers
NM_000478.6
p.M295T
c.884T>C
2 papers
NM_000478.6
p.M295I
c.885G>A
1 paper
NM_000478.6
p.M295I
c.885G>C
1 paper
NM_000478.6
p.M295I
c.885G>T
1 paper
NM_000478.6
p.Q296*
c.886C>T
1 paper
NM_000478.6
p.G293V
c.878G>T
6 papers
NM_000478.6
p.P292P
c.876A>C
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