Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G333Splc

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
25 papers
NM_000478.6
p.G333Splc
c.997+2T>A
Surrounding Variants
4 papers
NM_000478.6
p.G333Splc
c.997+2T>G
8 papers
NM_000478.6
p.G333Splc
c.997+3A>C
3 papers
NM_000478.6
p.G333Splc
c.997+3A>G
9 papers
NM_000478.6
p.G333Splc
c.997+1G>T
1 paper
NM_000478.6
p.G333delFs
c.997delG
3 papers
NM_000478.6
p.E332K
c.994G>A
3 papers
NM_000478.6
p.E332*
c.994G>T
1 paper
NM_000478.6
p.V331M
c.991G>A
2 papers
NM_000478.6
p.V331_E332ins6
c.991_995ins18
4 papers
NM_000478.6
p.F328L
c.984C>A
4 papers
NM_000478.6
p.F328L
c.984C>G
5 papers
NM_000478.6
p.F328L
c.982T>C
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