Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.Q114insFs

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.Q114insFs
c.340_341insT
Surrounding Variants
1 paper
NM_005368.3
p.Q114*
c.340C>T
1 paper
NM_005368.3
p.S109_I113del0
c.325_339del15
1 paper
NM_005368.3
p.I113I
c.339C>A
1 paper
NM_005368.3
p.I113T
c.338T>C
1 paper
NM_005368.3
p.I113F
c.337A>T
1 paper
NM_005368.3
p.V115A
c.344T>C
1 paper
NM_005368.3
p.I112T
c.335T>C
1 paper
NM_005368.3
p.L116R
c.347T>G
2 papers
NM_005368.3
p.L116Q
c.347T>A
1 paper
NM_005368.3
p.C111S
c.332G>C
1 paper
NM_005368.3
p.C111S
c.331T>A
1 paper
NM_005368.3
p.E110del1
c.328_329delTTC
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