Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.E349A

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.E349A
c.1046A>C
Surrounding Variants
1 paper
NM_001631.5
p.E349Q
c.1045G>C
1 paper
NM_001631.5
p.E349del1
c.1045_1046delGAG
1 paper
NM_001631.5
p.A350V
c.1049C>T
1 paper
NM_001631.5
p.T348fs
c.1042_1043fs
2 papers
NM_001631.5
p.A350A
c.1050G>A
1 paper
NM_001631.5
p.M352R
c.1055T>G
1 paper
NM_001631.5
p.D354D
c.1062C>T
1 paper
NM_001631.5
p.Y344H
c.1030T>C
1 paper
NM_001631.5
p.A356A
c.1068C>A
1 paper
NM_001631.5
p.G341G
c.1023T>C
1 paper
NM_001631.5
p.R359K
c.1076G>A
1 paper
NM_001631.5
p.A360P
c.1078G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."