Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.H472R

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
4 papers
NM_000478.6
p.H472R
c.1415A>G
Surrounding Variants
3 papers
NM_000478.6
p.H472Y
c.1414C>T
12 papers
NM_000478.6
p.G473S
c.1417G>A
4 papers
NM_000478.6
p.G473D
c.1418G>A
2 papers
NM_000478.6
p.L471_Q477del0
c.1412_1429del18
1 paper
NM_000478.6
p.H469Y
c.1405C>T
20 papers
NM_000478.6
p.E476K
c.1426G>A
NM_001177520.3
p.E399K
c.1195G>A
1 paper
NM_000478.6
p.E476Q
c.1426G>C
7 papers
NM_000478.6
p.E476A
c.1427A>C
2 papers
NM_000478.6
p.E476G
c.1427A>G
10 papers
NM_000478.6
p.A468V
c.1403C>T
11 papers
NM_000478.6
p.A468T
c.1402G>A
2 papers
NM_000478.6
p.A468S
c.1402G>T
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