Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E369A

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.E369A
c.1106A>C
Surrounding Variants
1 paper
NM_001177520.3
p.E292E
c.876A>G
1 paper
NM_000478.6
p.E369K
c.1105G>A
1 paper
NM_000478.6
p.D370A
c.1109A>C
2 papers
NM_000478.6
p.S368L
c.1103C>T
1 paper
NM_000478.6
p.D370E
c.1110C>A
1 paper
NM_000478.6
p.D370E
c.1110C>G
1 paper
NM_000478.6
p.S368P
c.1102T>C
1 paper
NM_000478.6
p.S368A
c.1102T>G
2 papers
NM_000478.6
p.L372delFs
c.1114_1115delCT
7 papers
NM_000478.6
p.S368del1
c.1102_1103delTCG
1 paper
NM_000478.6
p.T371N
c.1112C>A
29 papers
NM_000478.6
p.T371I
c.1112C>T
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."