Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.D123E

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.D123E
c.369C>A
Surrounding Variants
1 paper
NM_005368.3
p.D123E
c.369C>G
2 papers
NM_005368.3
p.D123A
c.368A>C
1 paper
NM_005368.3
p.D123N
c.367G>A
1 paper
NM_005368.3
p.P121T
c.361C>A
1 paper
NM_005368.3
p.K119del1
c.355_356delCTT
1 paper
NM_005368.3
p.A128T
c.382G>A
1 paper
NM_005368.3
p.K119R
c.356A>G
1 paper
NM_005368.3
p.A128D
c.383C>A
1 paper
NM_005368.3
p.Q129L
c.386A>T
1 paper
NM_005368.3
p.G130R
c.388G>A
1 paper
NM_005368.3
p.Q117R
c.350A>G
1 paper
NM_005368.3
p.Q117P
c.350A>C
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