Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.A85S

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.A85S
c.253G>T
Surrounding Variants
1 paper
NM_005368.3
p.A85T
c.253G>A
1 paper
NM_005368.3
p.E86Q
c.256G>C
1 paper
NM_005368.3
p.E86K
c.256G>A
1 paper
NM_005368.3
p.E84K
c.250G>A
1 paper
NM_005368.3
p.H83Q
c.249T>G
1 paper
NM_005368.3
p.H83Q
c.249T>A
2 papers
NM_005368.3
p.E86A
c.257A>C
1 paper
NM_005368.3
p.H82Q
c.246T>G
1 paper
NM_005368.3
p.H82Q
c.246T>A
1 paper
NM_005368.3
p.I87I
c.261T>A
1 paper
NM_005368.3
p.H82L
c.245A>T
1 paper
NM_005368.3
p.H82N
c.244C>A
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