Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A111T

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
28 papers
NM_000478.6
p.A111T
c.331G>A
Surrounding Variants
3 papers
NM_000478.6
p.A111ins2
c.331_332ins6
2 papers
NM_000478.6
p.A111delFs
c.333delC
1 paper
NM_000478.6
p.S110R
c.330T>A
13 papers
NM_000478.6
p.S110S
c.330T>C
1 paper
NM_000478.6
p.S110N
c.329G>A
1 paper
NM_000478.6
p.S110delFs
c.330delT
1 paper
NM_000478.6
p.S110_A111insPA
c.328_332ins6
7 papers
NM_000478.6
p.G112S
c.334G>A
18 papers
NM_000478.6
p.G112R
c.334G>C
4 papers
NM_000478.6
p.D109E
c.327C>A
3 papers
NM_000478.6
p.D109E
c.327C>G
1 paper
NM_000478.6
p.G112A
c.335G>C
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