Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V130L

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.V130L
c.388G>C
Surrounding Variants
3 papers
NM_000478.6
p.V130delFs
c.389delT
3 papers
NM_000478.6
p.V130fs
c.388_389fs
1 paper
NM_000478.6
p.V130insFs
c.389_390insG
1 paper
NM_000478.6
p.G129E
c.386G>A
8 papers
NM_000478.6
p.G129R
c.385G>A
4 papers
NM_000478.6
p.G129R
c.385G>C
3 papers
NM_000478.6
p.V130insFs
c.388_389insG
16 papers
NM_000478.6
p.V128M
c.382G>A
5 papers
NM_000478.6
p.A132T
c.394G>A
1 paper
NM_000478.6
p.A132G
c.395C>G
9 papers
NM_000478.6
p.A132V
c.395C>T
1 paper
NM_000478.6
p.T127I
c.380C>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."