Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.Y407*

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.Y407*
c.1221C>A
Surrounding Variants
2 papers
NM_001631.5
p.Y407*
c.1221C>G
1 paper
NM_001631.5
p.T408K
c.1223C>A
2 papers
NM_001631.5
p.N414S
c.1241A>G
2 papers
NM_001631.5
p.P416L
c.1247C>T
1 paper
NM_001631.5
p.Y418H
c.1252T>C
1 paper
NM_001631.5
p.V419M
c.1255G>A
1 paper
NM_001631.5
p.P426L
c.1277C>T
1 paper
NM_001631.5
p.G395Splc
c.1183+87C>T
1 paper
NM_001631.5
p.G434Splc
c.1301-6T>G
1 paper
NM_001631.5
p.G395Splc
c.1183+59T>C
5 papers
NM_001631.5
p.Q439*
c.1315C>T
6 papers
NM_001631.5
p.Q440Q
c.1320G>A
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."