Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R152C

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
16 papers
NM_000478.6
p.R152C
c.454C>T
Surrounding Variants
24 papers
NM_000478.6
p.R152H
c.455G>A
1 paper
NM_000478.6
p.R152_A154insFs
c.455_462dup8
2 papers
NM_000478.6
p.W153R
c.457T>A
2 papers
NM_000478.6
p.W153R
c.457T>C
2 papers
NM_000478.6
p.W153*
c.458G>A
2 papers
NM_000478.6
p.W153*
c.459G>A
1 paper
NM_000478.6
p.I150N
c.449T>A
1 paper
NM_000478.6
p.I150S
c.449T>G
3 papers
NM_000478.6
p.A154V
c.461C>T
1 paper
NM_000478.6
p.S149_I150delFs
c.445_448del4
8 papers
NM_000478.6
p.T148I
c.443C>T
3 papers
NM_000478.6
p.T148A
c.442A>G
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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."