Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G222fs

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.G222fs
c.664_665fs
Surrounding Variants
3 papers
NM_000478.6
p.G221V
c.662G>T
20 papers
NM_000478.6
p.R223W
c.667C>T
11 papers
NM_000478.6
p.G221R
c.661G>C
1 paper
NM_000478.6
p.G221fs
c.661_662fs
2 papers
NM_000478.6
p.G221C
c.661G>T
1 paper
NM_000478.6
p.G221fs
c.661_662fs
25 papers
NM_000478.6
p.R223Q
c.668G>A
13 papers
NM_000478.6
p.G220A
c.659G>C
7 papers
NM_000478.6
p.G220V
c.659G>T
7 papers
NM_000478.6
p.K224E
c.670A>G
3 papers
NM_000478.6
p.G220R
c.658G>A
3 papers
NM_000478.6
p.G220R
c.658G>C
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