Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.V114L

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_001127501.4
p.V114L
c.340G>C
Surrounding Variants
1 paper
NM_001127501.4
p.V114M
c.340G>A
1 paper
NM_001127501.4
p.V114L
c.340G>T
22 papers
NM_000478.6
p.V169V
c.507G>A
1 paper
NM_000478.6
p.R168K
c.503G>A
17 papers
NM_000478.6
p.N170D
c.508A>G
2 papers
NM_001177520.3
p.T90T
c.270G>A
NM_000478.6
p.T167T
c.501G>A
1 paper
NM_000478.6
p.T167K
c.500C>A
10 papers
NM_000478.6
p.T167M
c.500C>T
2 papers
NM_000478.6
p.N170N
c.510C>T
1 paper
NM_000478.6
p.T167P
c.499A>C
2 papers
NM_000478.6
p.H171D
c.511C>G
8 papers
NM_000478.6
p.H171Y
c.511C>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."