Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A492delFs

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
4 papers
NM_000478.6
p.A492delFs
c.1474delG
Surrounding Variants
26 papers
NM_000478.6
p.G491R
c.1471G>A
24 papers
NM_000478.6
p.G491R
c.1471G>C
6 papers
NM_000478.6
p.I490F
c.1468A>T
1 paper
NM_000478.6
p.G491A
c.1472G>C
1 paper
NM_000478.6
p.C489*
c.1467C>A
2 papers
NM_000478.6
p.C489Y
c.1466G>A
8 papers
NM_000478.6
p.C489S
c.1466G>C
1 paper
NM_000478.6
p.A492fs
c.1474_1475fs
2 papers
NM_000478.6
p.A492fs
c.1474_1475fs
8 papers
NM_000478.6
p.C489S
c.1465T>A
1 paper
NM_000478.6
p.A488G
c.1463C>G
1 paper
NM_000478.6
p.N493S
c.1478A>G
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