Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N140D

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.N140D
c.418A>G
Surrounding Variants
1 paper
NM_000478.6
p.C139C
c.417C>T
1 paper
NM_000478.6
p.N140delFs
c.419delA
3 papers
NM_000478.6
p.C139Y
c.416G>A
10 papers
NM_000478.6
p.T141N
c.422C>A
6 papers
NM_000478.6
p.T141I
c.422C>T
2 papers
NM_000478.6
p.R138Q
c.413G>A
3 papers
NM_000478.6
p.R138P
c.413G>C
3 papers
NM_000478.6
p.Q143delFs
c.427delC
1 paper
NM_000478.6
p.R138fs
c.412_413fs
1 paper
NM_000478.6
p.Q143fs
c.427_428fs
1 paper
NM_000478.6
p.Q143fs
c.427_428fs
1 paper
NM_000478.6
p.S137T
c.409T>A
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