Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.S111S

ALPI

398 papers

RefSeq Summary

There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes...

Pfam Domains

Alk_phosphataseaa 52–487UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, intestinal

HGNC Alias Symbol

IAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001631.5
p.S111S
c.333C>T
Surrounding Variants
1 paper
NM_001631.5
p.A113V
c.338C>T
1 paper
NM_001631.5
p.A115S
c.343G>T
1 paper
NM_001631.5
p.V108M
c.322G>A
1 paper
NM_001631.5
p.A117V
c.350C>T
1 paper
NM_001631.5
p.A117A
c.351C>A
1 paper
NM_001631.5
p.Y102N
c.304T>A
1 paper
NM_001631.5
p.K100_T101Splc
c.301-1G>A
1 paper
NM_001631.5
p.K100_T101Splc
c.301-2A>G
1 paper
NM_001631.5
p.I129delFs
c.387delC
1 paper
NM_001631.5
p.I129I
c.387C>T
1 paper
NM_001631.5
p.G130S
c.388G>A
1 paper
NM_001631.5
p.G130R
c.388G>C
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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."