Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.N493K

ALPL

761 papers

RefSeq Summary

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kid...

Pfam Domains

Alk_phosphataseaa 51–490UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, biomineralization associated

HGNC Previous Symbol

HOPS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000478.6
p.N493K
c.1479C>G
Surrounding Variants
2 papers
NM_000478.6
p.N493K
c.1479C>A
1 paper
NM_000478.6
p.N493S
c.1478A>G
8 papers
NM_000478.6
p.G495S
c.1483G>A
1 paper
NM_000478.6
p.G495R
c.1483G>C
1 paper
NM_000478.6
p.G495D
c.1484G>A
1 paper
NM_000478.6
p.A492fs
c.1474_1475fs
2 papers
NM_000478.6
p.A492fs
c.1474_1475fs
1 paper
NM_000478.6
p.G491A
c.1472G>C
4 papers
NM_000478.6
p.H496R
c.1487A>G
26 papers
NM_000478.6
p.G491R
c.1471G>A
24 papers
NM_000478.6
p.G491R
c.1471G>C
4 papers
NM_000478.6
p.A492delFs
c.1474delG
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."