Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S160delFs

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.S160delFs
c.480delT
Surrounding Variants
1 paper
NM_000478.6
p.S160F
c.479C>T
1 paper
NM_000478.6
p.K159I
c.476A>T
1 paper
NM_000478.6
p.G162delFs
c.485delG
12 papers
NM_000478.6
p.G162S
c.484G>A
1 paper
NM_000478.6
p.G162D
c.485G>A
7 papers
NM_000478.6
p.G162V
c.485G>T
5 papers
NM_000478.6
p.G158Splc
c.473-2A>G
1 paper
NM_000478.6
p.G158delFs
c.474delG
1 paper
NM_000478.6
p.V164V
c.492G>A
2 papers
NM_000478.6
p.T166_T167del1
c.498_500delCAC
3 papers
NM_000478.6
p.T165I
c.494C>T
6 papers
NM_000478.6
p.T166I
c.497C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."