Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R30_D31insFs

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.R30_D31insFs
c.90_91insC
Surrounding Variants
1 paper
NM_000478.6
p.R30Q
c.89G>A
1 paper
NM_000478.6
p.D31A
c.92A>C
1 paper
NM_000478.6
p.R30G
c.88C>G
7 papers
NM_000478.6
p.R30*
c.88C>T
2 papers
NM_000478.6
p.Q32*
c.94C>T
1 paper
NM_000478.6
p.Q32_A33delFs
c.96_97delAG
4 papers
NM_000478.6
p.W29R
c.85T>A
5 papers
NM_000478.6
p.W29R
c.85T>C
9 papers
NM_000478.6
p.Y28C
c.83A>G
1 paper
NM_000478.6
p.A33fs
c.97_98fs
1 paper
NM_000478.6
p.A33G
c.98C>G
28 papers
NM_000478.6
p.A33V
c.98C>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."