Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R246fs

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.R246fs
c.736_737fs
Surrounding Variants
1 paper
NM_000478.6
p.R246delFs
c.737delG
2 papers
NM_000478.6
p.T245M
c.734C>T
4 papers
NM_000478.6
p.R246S
c.738G>C
9 papers
NM_000478.6
p.R246S
c.738G>T
1 paper
NM_000478.6
p.D248_G249del0
c.742_747del6
1 paper
NM_000478.6
p.D248D
c.744C>T
1 paper
NM_000478.6
p.A242A
c.726C>A
25 papers
NM_000478.6
p.G249V
c.746G>T
1 paper
NM_000478.6
p.A242V
c.725C>T
1 paper
NM_000478.6
p.L250L
c.748C>T
1 paper
NM_000478.6
p.K241insFs
c.722_723insC
1 paper
NM_000478.6
p.D251H
c.751G>C
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."