Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.K408del1

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.K408del1
c.1222_1224delAAG
Surrounding Variants
13 papers
NM_000478.6
p.D406G
c.1217A>G
3 papers
NM_000478.6
p.D406N
c.1216G>A
1 paper
NM_000478.6
p.D406Y
c.1216G>T
1 paper
NM_000478.6
p.K407K
c.1221G>A
3 papers
NM_000478.6
p.T405P
c.1213A>C
1 paper
NM_000478.6
p.D406_K407delFs
c.1216_1219del4
3 papers
NM_000478.6
p.P409A
c.1225C>G
1 paper
NM_000478.6
p.P409S
c.1225C>T
1 paper
NM_000478.6
p.S403N
c.1208G>A
2 papers
NM_000478.6
p.F410L
c.1228T>C
1 paper
NM_000478.6
p.S403R
c.1207A>C
1 paper
NM_000478.6
p.S403C
c.1207A>T
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