Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G334R

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
3 papers
NM_000478.6
p.G334R
c.1000G>C
Surrounding Variants
1 paper
NM_000478.6
p.G334S
c.1000G>A
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
1 paper
NM_000478.6
p.G333Splc
c.998-1G>A
2 papers
NM_000478.6
p.G333Splc
c.998-1G>T
1 paper
NM_000478.6
p.G333Splc
c.998-2A>G
6 papers
NM_000478.6
p.R335T
c.1004G>C
1 paper
NM_000478.6
p.I336T
c.1007T>C
7 papers
NM_000478.6
p.D337G
c.1010A>G
1 paper
NM_000478.6
p.H338fs
c.1012_1013fs
2 papers
NM_000478.6
p.H338R
c.1013A>G
3 papers
NM_000478.6
p.G339insFs
c.1017dupG
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