Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.E39A

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.E39A
c.116A>C
Surrounding Variants
1 paper
NM_005368.3
p.P38A
c.112C>G
1 paper
NM_005368.3
p.P38insFs
c.112_113insA
1 paper
NM_005368.3
p.P38T
c.112C>A
1 paper
NM_005368.3
p.H37Q
c.111C>A
1 paper
NM_005368.3
p.L41P
c.122T>C
1 paper
NM_005368.3
p.L41Q
c.122T>A
1 paper
NM_005368.3
p.H37P
c.110A>C
1 paper
NM_005368.3
p.E42Q
c.124G>C
1 paper
NM_005368.3
p.E42A
c.125A>C
1 paper
NM_005368.3
p.E42D
c.126G>T
1 paper
NM_005368.3
p.E42D
c.126G>C
1 paper
NM_005368.3
p.G36R
c.106G>C
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