Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.R461R

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
3 papers
NM_001631.5
p.R461R
c.1383C>T
Surrounding Variants
1 paper
NM_001631.5
p.R461H
c.1382G>A
1 paper
NM_001631.5
p.R461L
c.1382G>T
1 paper
NM_001631.5
p.R461C
c.1381C>T
1 paper
NM_001631.5
p.A460V
c.1379C>T
1 paper
NM_001631.5
p.V456A
c.1367T>C
1 paper
NM_001631.5
p.E473A
c.1418A>C
1 paper
NM_001631.5
p.E449D
c.1347G>C
1 paper
NM_001631.5
p.E449D
c.1347G>T
1 paper
NM_001631.5
p.A478V
c.1433C>T
1 paper
NM_001631.5
p.V444E
c.1331T>A
1 paper
NM_001631.5
p.A482insFs
c.1444_1445insC
1 paper
NM_001631.5
p.Q441*
c.1321C>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."