Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.S276C

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
2 papers
NM_001631.5
p.S276C
c.827C>G
Surrounding Variants
1 paper
NM_001631.5
p.S276A
c.826T>G
1 paper
NM_001631.5
p.L277Q
c.830T>A
1 paper
NM_001631.5
p.D278D
c.834C>T
1 paper
NM_001631.5
p.S280F
c.839C>T
1 paper
NM_001631.5
p.L272F
c.814C>T
1 paper
NM_001631.5
p.R269R
c.807C>T
1 paper
NM_001631.5
p.V266V
c.798G>C
1 paper
NM_001631.5
p.A263V
c.788C>T
1 paper
NM_001631.5
p.A263insFs
c.787_788insC
1 paper
NM_001631.5
p.G262G
c.786T>C
1 paper
NM_001631.5
p.Q261_G262Splc
c.783+15T>C
1 paper
NM_001631.5
p.Q261_G262Splc
c.783+1G>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."