Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.E440E

ALPP

186 papers

RefSeq Summary

The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline pho...

Pfam Domains

Alk_phosphataseaa 55–490UCSCAlkaline phosphatase

Gene Aliases

HGNC Name

alkaline phosphatase, placental

HGNC Alias Symbols

PALP; PLAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001632.5
p.E440E
c.1320G>A
Surrounding Variants
1 paper
NM_001632.5
p.R442W
c.1324C>T
1 paper
NM_001632.5
p.S438N
c.1313G>A
1 paper
NM_001632.5
p.D450E
c.1350C>A
1 paper
NM_001632.5
p.D450E
c.1350C>G
7 papers
NM_001632.5
p.E451G
c.1352A>G
1 paper
NM_001632.5
p.G456S
c.1366G>A
1 paper
NM_001632.5
p.V459A
c.1376T>C
1 paper
NM_001632.5
p.E476K
c.1426G>A
1 paper
NM_001632.5
p.H482insFs
c.1444_1445insC
1 paper
NM_001632.5
p.C489S
c.1465T>A
1 paper
NM_001632.5
p.E435K
c.1303G>A
1 paper
NM_001632.5
p.C489S
c.1466G>C
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