Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G360_Q361insFs

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.G360_Q361insFs
c.1078_1081dup4
Surrounding Variants
12 papers
NM_000478.6
p.I359M
c.1077C>G
2 papers
NM_000478.6
p.G360R
c.1078G>A
2 papers
NM_000478.6
p.G360R
c.1078G>C
1 paper
NM_000478.6
p.S364insFs
c.1091_1092ins4
1 paper
NM_000478.6
p.A358D
c.1073C>A
1 paper
NM_000478.6
p.A358T
c.1072G>A
1 paper
NM_000478.6
p.Q361K
c.1081C>A
1 paper
NM_000478.6
p.Q361fs
c.1081_1082fs
2 papers
NM_000478.6
p.Q361_A362insFs
c.1083_1084dupGG
2 papers
NM_000478.6
p.R357Q
c.1070G>A
3 papers
NM_000478.6
p.R357L
c.1070G>T
2 papers
NM_000478.6
p.R357W
c.1069C>T
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