Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A177T

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
35 papers
NM_000478.6
p.A177T
c.529G>A
Surrounding Variants
3 papers
NM_000478.6
p.A177V
c.530C>T
2 papers
NM_000478.6
p.A176V
c.527C>T
46 papers
NM_000478.6
p.A176T
c.526G>A
8 papers
NM_000478.6
p.Y178H
c.532T>C
1 paper
NM_000478.6
p.Y178Y
c.534C>T
20 papers
NM_000478.6
p.A179T
c.535G>A
1 paper
NM_000478.6
p.A179V
c.536C>T
1 paper
NM_000478.6
p.P174L
c.521C>T
3 papers
NM_000478.6
p.H180N
c.538C>A
1 paper
NM_000478.6
p.P174S
c.520C>T
3 papers
NM_000478.6
p.H180R
c.539A>G
3 papers
NM_000478.6
p.T173I
c.518C>T
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