Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Q143fs

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.Q143fs
c.427_428fs
Surrounding Variants
1 paper
NM_000478.6
p.Q143fs
c.427_428fs
3 papers
NM_000478.6
p.Q143delFs
c.427delC
2 papers
NM_000478.6
p.G144E
c.431G>A
1 paper
NM_000478.6
p.G144A
c.431G>C
10 papers
NM_000478.6
p.T141N
c.422C>A
6 papers
NM_000478.6
p.T141I
c.422C>T
1 paper
NM_000478.6
p.N145D
c.433A>G
1 paper
NM_000478.6
p.N145K
c.435C>A
1 paper
NM_000478.6
p.N145K
c.435C>G
1 paper
NM_000478.6
p.E146delFs
c.436delG
1 paper
NM_000478.6
p.N140D
c.418A>G
12 papers
NM_000478.6
p.E146K
c.436G>A
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