Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.K43M

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.K43M
c.128A>T
Surrounding Variants
1 paper
NM_005368.3
p.K43K
c.129G>A
1 paper
NM_005368.3
p.K43*
c.127A>T
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.E42E
c.126G>A
1 paper
NM_005368.3
p.E42A
c.125A>C
1 paper
NM_005368.3
p.E42Q
c.124G>C
1 paper
NM_005368.3
p.D45N
c.133G>A
1 paper
NM_005368.3
p.L41P
c.122T>C
1 paper
NM_005368.3
p.L41Q
c.122T>A
2 papers
NM_005368.3
p.D45A
c.134A>C
1 paper
NM_005368.3
p.F47L
c.139T>C
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