Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.Q27E

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
3 papers
NM_005368.3
p.Q27E
c.79C>G
Surrounding Variants
1 paper
NM_005368.3
p.G26E
c.77G>A
1 paper
NM_005368.3
p.G26R
c.76G>C
1 paper
NM_005368.3
p.G26R
c.76G>A
2 papers
NM_005368.3
p.V29A
c.86T>C
1 paper
NM_005368.3
p.V29V
c.87C>T
1 paper
NM_005368.3
p.V29V
c.87C>A
2 papers
NM_005368.3
p.L30H
c.89T>A
1 paper
NM_005368.3
p.L30L
c.90C>T
1 paper
NM_005368.3
p.P23L
c.68C>T
2 papers
NM_005368.3
p.L30L
c.90C>A
2 papers
NM_005368.3
p.P23T
c.67C>A
1 paper
NM_005368.3
p.I31S
c.92T>G
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