Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.I395T

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
2 papers
NM_000478.6
p.I395T
c.1184T>C
Surrounding Variants
13 papers
NM_000478.6
p.I395V
c.1183A>G
3 papers
NM_000478.6
p.I395F
c.1183A>T
1 paper
NM_000478.6
p.F396S
c.1187T>C
1 paper
NM_000478.6
p.S394fs
c.1180_1181fs
2 papers
NM_000478.6
p.N393S
c.1178A>G
2 papers
NM_000478.6
p.S394delFs
c.1181_1182delCT
6 papers
NM_000478.6
p.G397D
c.1190G>A
1 paper
NM_000478.6
p.G392A
c.1175G>C
18 papers
NM_000478.6
p.R391H
c.1172G>A
1 paper
NM_000478.6
p.R391P
c.1172G>C
1 paper
NM_000478.6
p.R391fs
c.1171_1172fs
32 papers
NM_000478.6
p.R391C
c.1171C>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."