Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.Q153L

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.Q153L
c.458A>T
Surrounding Variants
1 paper
NM_005368.3
p.G154S
c.460G>A
1 paper
NM_005368.3
p.G154fs
c.460_461fs
1 paper
NM_005368.3
p.G151D
c.452G>A
1 paper
NM_005368.3
p.*155W
c.464A>G
1 paper
NM_005368.3
p.L150Q
c.449T>A
1 paper
NM_005368.3
p.K148N
c.444G>T
1 paper
NM_005368.3
p.K148N
c.444G>C
1 paper
NM_005368.3
p.N146N
c.438C>T
1 paper
NM_005368.3
p.N146K
c.438C>G
1 paper
NM_005368.3
p.N146T
c.437A>C
1 paper
NM_005368.3
p.N146D
c.436A>G
1 paper
NM_005368.3
p.S145P
c.433T>C
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