Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.W29R

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.W29R
c.85T>A
Surrounding Variants
5 papers
NM_000478.6
p.W29R
c.85T>C
9 papers
NM_000478.6
p.Y28C
c.83A>G
1 paper
NM_000478.6
p.R30G
c.88C>G
7 papers
NM_000478.6
p.R30*
c.88C>T
1 paper
NM_000478.6
p.Y28H
c.82T>C
8 papers
NM_000478.6
p.Y28D
c.82T>G
1 paper
NM_000478.6
p.K27K
c.81G>A
1 paper
NM_000478.6
p.R30Q
c.89G>A
1 paper
NM_000478.6
p.R30_D31insFs
c.90_91insC
1 paper
NM_000478.6
p.D31A
c.92A>C
1 paper
NM_000478.6
p.P26L
c.77C>T
1 paper
NM_000478.6
p.P26T
c.76C>A
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