Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.I22I

MB

646 papers

RefSeq Summary

This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily respo...

Pfam Domains

Globinaa 1–88UCSCGlobin
Globinaa 27–143UCSCGlobin

Gene Aliases

HGNC Name

myoglobin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005368.3
p.I22I
c.66C>A
Surrounding Variants
2 papers
NM_005368.3
p.P23T
c.67C>A
1 paper
NM_005368.3
p.P23L
c.68C>T
1 paper
NM_005368.3
p.D21E
c.63C>G
1 paper
NM_005368.3
p.D21E
c.63C>A
1 paper
NM_005368.3
p.A20A
c.60T>G
1 paper
NM_005368.3
p.A20V
c.59C>T
1 paper
NM_005368.3
p.G26R
c.76G>C
1 paper
NM_005368.3
p.G26R
c.76G>A
1 paper
NM_005368.3
p.E19V
c.56A>T
1 paper
NM_005368.3
p.E19G
c.56A>G
2 papers
NM_005368.3
p.E19A
c.56A>C
1 paper
NM_005368.3
p.G26E
c.77G>A
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