Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Y101C

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
2 papers
NM_000478.6
p.Y101C
c.302A>G
Surrounding Variants
1 paper
NM_000478.6
p.N102_T103del2
c.304_308del6
5 papers
NM_000478.6
p.Y101*
c.303C>A
1 paper
NM_000478.6
p.N102_N104ins1
c.304_312dup9
4 papers
NM_000478.6
p.Y101*
c.303C>G
2 papers
NM_000478.6
p.Y101D
c.301T>G
3 papers
NM_000478.6
p.Y101_N104del0
c.302_310del9
1 paper
NM_000478.6
p.N102T
c.305A>C
1 paper
NM_000478.6
p.N102S
c.305A>G
20 papers
NM_000478.6
p.T100M
c.299C>T
1 paper
NM_000478.6
p.N102N
c.306C>T
5 papers
NM_000478.6
p.K99_T100Splc
c.298-1G>A
1 paper
NM_000478.6
p.K99_T100Splc
c.298-1G>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."