Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.D239A

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
3 papers
NM_000478.6
p.D239A
c.716A>C
Surrounding Variants
6 papers
NM_000478.6
p.D239Y
c.715G>T
2 papers
NM_000478.6
p.E237E
c.711G>A
1 paper
NM_000478.6
p.K241insFs
c.722_723insC
1 paper
NM_000478.6
p.Y236*
c.708T>A
1 paper
NM_000478.6
p.Y236*
c.708T>G
4 papers
NM_000478.6
p.Y236C
c.707A>G
1 paper
NM_000478.6
p.A242V
c.725C>T
1 paper
NM_000478.6
p.A242A
c.726C>A
22 papers
NM_000478.6
p.E235E
c.705G>A
1 paper
NM_000478.6
p.E235A
c.704A>C
12 papers
NM_000478.6
p.E235G
c.704A>G
1 paper
NM_000478.6
p.E235V
c.704A>T
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