Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.Q246K

MPO

688 papers

RefSeq Summary

Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myelop...

Pfam Domains

An_peroxidaseaa 173–718UCSCAnimal haem peroxidase

Gene Aliases

HGNC Name

myeloperoxidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000250.2
p.Q246K
c.736C>A
Surrounding Variants
1 paper
NM_000250.2
p.L242_D245delFs
c.726_735del10
1 paper
NM_000250.2
p.D245D
c.735C>T
1 paper
NM_000250.2
p.Q246delFs
c.736delG
1 paper
NM_000250.2
p.L250V
c.748C>G
1 paper
NM_000250.2
p.Q241P
c.722A>C
1 paper
NM_000250.2
p.Q241delFs
c.721delG
44 papers
NM_000250.2
p.M251T
c.752T>C
1 paper
NM_000250.2
p.S249_M253del5
c.745_758del15
1 paper
NM_000250.2
p.Q254Q
c.762A>G
1 paper
NM_000250.2
p.A229_R236delFs
c.687_708del22
1 paper
NM_000250.2
p.R236H
c.707G>A
1 paper
NM_000250.2
p.R236C
c.706C>T
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