Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.I413insFs

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.I413insFs
c.1238_1239insA
Surrounding Variants
10 papers
NM_000478.6
p.L414M
c.1240C>A
1 paper
NM_000478.6
p.A412P
c.1234G>C
1 paper
NM_000478.6
p.A412_I413insC
c.1234_1238ins3
4 papers
NM_000478.6
p.Y415D
c.1243T>G
8 papers
NM_000478.6
p.T411A
c.1231A>G
1 paper
NM_000478.6
p.F410L
c.1230C>A
1 paper
NM_000478.6
p.F410L
c.1230C>G
1 paper
NM_001177520.3
p.G339R
c.1015G>C
1 paper
NM_000478.6
p.G416D
c.1247G>A
3 papers
NM_000478.6
p.G416V
c.1247G>T
1 paper
NM_000478.6
p.F410S
c.1229T>C
2 papers
NM_000478.6
p.F410L
c.1228T>C
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