Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.L402L

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.L402L
c.1206G>C
Surrounding Variants
1 paper
NM_000478.6
p.L402_S403insFs
c.1206_1207insC
1 paper
NM_000478.6
p.S403R
c.1207A>C
1 paper
NM_000478.6
p.S403C
c.1207A>T
1 paper
NM_000478.6
p.L402V
c.1204C>G
1 paper
NM_000478.6
p.S403N
c.1208G>A
1 paper
NM_000478.6
p.D406_K407delFs
c.1216_1219del4
3 papers
NM_000478.6
p.T405P
c.1213A>C
2 papers
NM_000478.6
p.P400L
c.1199C>T
1 paper
NM_000478.6
p.A399V
c.1196C>T
3 papers
NM_000478.6
p.D406N
c.1216G>A
1 paper
NM_000478.6
p.D406Y
c.1216G>T
13 papers
NM_000478.6
p.D406G
c.1217A>G
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