Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Y39C

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.Y39C
c.116A>G
Surrounding Variants
34 papers
NM_000478.6
p.Y39F
c.116A>T
3 papers
NM_000478.6
p.Y39N
c.115T>A
1 paper
NM_000478.6
p.Y39Y
c.117T>C
1 paper
NM_000478.6
p.A40insFs
c.118dupG
1 paper
NM_000478.6
p.K38K
c.114A>G
3 papers
NM_000478.6
p.K38N
c.114A>T
2 papers
NM_001177520.3
p.M1I
c.3G>A
NM_000478.6
p.A40T
c.118G>A
1 paper
NM_001177520.3
p.M1I
c.3G>C
1 paper
NM_001177520.3
p.M1I
c.3G>T
23 papers
NM_000478.6
p.A40V
c.119C>T
1 paper
NM_000478.6
p.K38_Y39delFs
c.113_116del4
3 papers
NM_000478.6
p.L37P
c.110T>C
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