Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.I336T

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.I336T
c.1007T>C
Surrounding Variants
7 papers
NM_000478.6
p.D337G
c.1010A>G
6 papers
NM_000478.6
p.R335T
c.1004G>C
1 paper
NM_000478.6
p.H338fs
c.1012_1013fs
2 papers
NM_000478.6
p.H338R
c.1013A>G
56 papers
NM_000478.6
p.G334D
c.1001G>A
NM_001177520.3
p.G257D
c.770G>A
NM_001127501.4
p.G279D
c.836G>A
2 papers
NM_000478.6
p.G334A
c.1001G>C
3 papers
NM_000478.6
p.G339insFs
c.1017dupG
1 paper
NM_000478.6
p.H338H
c.1014C>T
1 paper
NM_000478.6
p.G334S
c.1000G>A
3 papers
NM_000478.6
p.G334R
c.1000G>C
13 papers
NM_000478.6
p.G339R
c.1015G>A
11 papers
NM_000478.6
p.G339R
c.1015G>C
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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."