Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.T134N

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
9 papers
NM_000478.6
p.T134N
c.401C>A
Surrounding Variants
2 papers
NM_000478.6
p.T134P
c.400A>C
5 papers
NM_000478.6
p.T134delins
c.400_401delinsCA
1 paper
NM_000478.6
p.T134delins
c.400_401delinsAC
3 papers
NM_000478.6
p.E135K
c.403G>A
3 papers
NM_000478.6
p.A133G
c.398C>G
1 paper
NM_000478.6
p.R136G
c.406C>G
18 papers
NM_000478.6
p.R136C
c.406C>T
1 paper
NM_000478.6
p.A132G
c.395C>G
9 papers
NM_000478.6
p.A132V
c.395C>T
72 papers
NM_000478.6
p.R136H
c.407G>A
2 papers
NM_000478.6
p.R136P
c.407G>C
4 papers
NM_000478.6
p.R136L
c.407G>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."