Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.E195G

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.E195G
c.584A>G
Surrounding Variants
1 paper
NM_001127501.4
p.E140E
c.420G>A
1 paper
NM_000478.6
p.E195Q
c.583G>C
1 paper
NM_000478.6
p.A196T
c.586G>A
1 paper
NM_000478.6
p.A196V
c.587C>T
1 paper
NM_000478.6
p.P194S
c.580C>T
1 paper
NM_000478.6
p.P193R
c.578C>G
2 papers
NM_000478.6
p.P193A
c.577C>G
8 papers
NM_000478.6
p.M192T
c.575T>C
1 paper
NM_000478.6
p.Q199*
c.595C>T
1 paper
NM_000478.6
p.E191D
c.573G>C
1 paper
NM_000478.6
p.E191D
c.573G>T
20 papers
NM_000478.6
p.E191G
c.572A>G
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