Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A498_A500del3

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.A498_A500del3
c.1492_1499del9
Surrounding Variants
1 paper
NM_000478.6
p.C497Y
c.1490G>A
1 paper
NM_000478.6
p.A498T
c.1492G>A
5 papers
NM_000478.6
p.C497S
c.1490G>C
7 papers
NM_000478.6
p.C497S
c.1489T>A
2 papers
NM_000478.6
p.C497R
c.1489T>C
1 paper
NM_000478.6
p.C497_A498delFs
c.1491_1492delTG
4 papers
NM_000478.6
p.H496R
c.1487A>G
1 paper
NM_000478.6
p.G495D
c.1484G>A
8 papers
NM_000478.6
p.G495S
c.1483G>A
1 paper
NM_000478.6
p.G495R
c.1483G>C
2 papers
NM_000478.6
p.N493K
c.1479C>A
1 paper
NM_000478.6
p.N493K
c.1479C>G
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