Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.T71S

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.T71S
c.212C>G
Surrounding Variants
1 paper
NM_001631.5
p.T71S
c.211A>T
1 paper
NM_001631.5
p.R72R
c.216G>A
1 paper
NM_001631.5
p.V68E
c.203T>A
1 paper
NM_001631.5
p.P66P
c.198C>T
1 paper
NM_001631.5
p.G76V
c.227G>T
1 paper
NM_001631.5
p.V65_P66insFs
c.195_196insT
1 paper
NM_001631.5
p.G64G
c.192G>C
1 paper
NM_001631.5
p.L63*
c.188T>A
1 paper
NM_001631.5
p.G80R
c.238G>C
1 paper
NM_001631.5
p.G62Splc
c.185-1G>A
1 paper
NM_001631.5
p.G62Splc
c.185-1G>C
1 paper
NM_001631.5
p.G62Splc
c.185-13T>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."