Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.L37P

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
3 papers
NM_000478.6
p.L37P
c.110T>C
Surrounding Variants
1 paper
NM_000478.6
p.K38_Y39delFs
c.113_116del4
1 paper
NM_000478.6
p.T36I
c.107C>T
5 papers
NM_000478.6
p.T36P
c.106A>C
1 paper
NM_000478.6
p.K38K
c.114A>G
3 papers
NM_000478.6
p.K38N
c.114A>T
3 papers
NM_000478.6
p.Y39N
c.115T>A
1 paper
NM_000478.6
p.E35A
c.104A>C
1 paper
NM_000478.6
p.Y39C
c.116A>G
34 papers
NM_000478.6
p.Y39F
c.116A>T
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.Q34H
c.102A>T
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