Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.D503N

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.D503N
c.1507G>A
Surrounding Variants
1 paper
NM_001631.5
p.P497L
c.1490C>T
1 paper
NM_001631.5
p.P497S
c.1489C>T
1 paper
NM_001631.5
p.S511_L512ins4
c.1531_1535ins12
2 papers
NM_001631.5
p.A516V
c.1547C>T
1 paper
NM_001631.5
p.G517_T518insFs
c.1551_1552ins20
1 paper
NM_001631.5
p.T518_S525delins
c.1552_1573delinsGACCCTGCTGCCACTGCTG
1 paper
NM_001631.5
p.L520delFs
c.1559delT
1 paper
NM_001631.5
p.A482insFs
c.1444_1445insC
1 paper
NM_001631.5
p.A478V
c.1433C>T
1 paper
NM_001631.5
p.E473A
c.1418A>C
3 papers
NM_001631.5
p.R461R
c.1383C>T
1 paper
NM_001631.5
p.R461H
c.1382G>A
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