Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.K57R

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.K57R
c.170A>G
Surrounding Variants
1 paper
NM_005368.3
p.A58P
c.172G>C
1 paper
NM_005368.3
p.A58T
c.172G>A
1 paper
NM_005368.3
p.A58G
c.173C>G
1 paper
NM_005368.3
p.A58E
c.173C>A
1 paper
NM_005368.3
p.A58A
c.174G>C
1 paper
NM_005368.3
p.A58A
c.174G>A
1 paper
NM_005368.3
p.E55G
c.164A>G
1 paper
NM_005368.3
p.E55Q
c.163G>C
1 paper
NM_005368.3
p.E55K
c.163G>A
1 paper
NM_005368.3
p.E60*
c.178G>T
1 paper
NM_005368.3
p.E60V
c.179A>T
1 paper
NM_005368.3
p.D54V
c.161A>T
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