Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.A446A

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.A446A
c.1338T>C
Surrounding Variants
4 papers
NM_000478.6
p.A446T
c.1336G>A
1 paper
NM_000478.6
p.V447A
c.1340T>C
1 paper
NM_000478.6
p.P448_L449insFs
c.1344_1345insC
1 paper
NM_000478.6
p.S445S
c.1335T>G
1 paper
NM_000478.6
p.S445C
c.1334C>G
1 paper
NM_000478.6
p.S445F
c.1334C>T
1 paper
NM_000478.6
p.P448S
c.1342C>T
1 paper
NM_001177520.3
p.P371L
c.1112C>T
2 papers
NM_000478.6
p.S445T
c.1333T>A
17 papers
NM_000478.6
p.S445P
c.1333T>C
1 paper
NM_000478.6
p.S445_P448del4
c.1333_1343del12
2 papers
NM_000478.6
p.Q444R
c.1331A>G
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