Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S181L

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
27 papers
NM_000478.6
p.S181L
c.542C>T
Surrounding Variants
1 paper
NM_000478.6
p.S181W
c.542C>G
28 papers
NM_000478.6
p.A182delFs
c.544delG
1 paper
NM_000478.6
p.A182fs
c.544_545fs
3 papers
NM_000478.6
p.H180R
c.539A>G
3 papers
NM_000478.6
p.H180N
c.538C>A
2 papers
NM_000478.6
p.D183N
c.547G>A
3 papers
NM_000478.6
p.D183H
c.547G>C
1 paper
NM_000478.6
p.A179V
c.536C>T
20 papers
NM_000478.6
p.A179T
c.535G>A
1 paper
NM_000478.6
p.R184G
c.550C>G
28 papers
NM_000478.6
p.R184W
c.550C>T
1 paper
NM_000478.6
p.Y178Y
c.534C>T
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