Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.F678fs

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.F678fs
c.2032_2033fs
Surrounding Variants
1 paper
NM_000250.2
p.R677Splc
c.2031-1G>A
1 paper
NM_000250.2
p.R677W
c.2029C>T
42 papers
NM_000250.2
p.R677Splc
c.2031-2A>C
2 papers
NM_000250.2
p.E683Q
c.2047G>C
1 paper
NM_000250.2
p.R677Splc
c.2031-24T>A
1 paper
NM_000250.2
p.F686_S687delFs
c.2057_2060del4
1 paper
NM_000250.2
p.M688delFs
c.2062_2063delAT
2 papers
NM_000250.2
p.R691fs
c.2071_2072fs
1 paper
NM_000250.2
p.P700_R701delFs
c.2098_2102del5
1 paper
NM_000250.2
p.C704Y
c.2111G>A
1 paper
NM_000250.2
p.D705G
c.2114A>G
1 paper
NM_000250.2
p.I709T
c.2126T>C
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