Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.A195_S196insT

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.A195_S196insT
c.583_587ins3
Surrounding Variants
1 paper
NM_001631.5
p.P194R
c.581C>G
1 paper
NM_001631.5
p.A197T
c.589G>A
3 papers
NM_001631.5
p.E200K
c.598G>A
1 paper
NM_001631.5
p.T207I
c.620C>T
2 papers
NM_001631.5
p.L209V
c.625C>G
1 paper
NM_001631.5
p.D214N
c.640G>A
2 papers
NM_001631.5
p.I215T
c.644T>C
1 paper
NM_001631.5
p.A173A
c.519C>T
1 paper
NM_001631.5
p.D216_V217Splc
c.648+1G>T
1 paper
NM_001631.5
p.Q171insFs
c.511_512ins4
1 paper
NM_001631.5
p.V170M
c.508G>A
1 paper
NM_001631.5
p.R169R
c.507G>A
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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."