Varaico: Literature-Extracted Genetic Variants

Gene:MB

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
1–12 of 228 variants
8 papers
NM_005368.3
p.L33R
c.98T>G
6 papers
NM_005368.3
p.W8*
c.23G>A
3 papers
NM_005368.3
p.S4N
c.11G>A
3 papers
NM_005368.3
p.V14A
c.41T>C
3 papers
NM_005368.3
p.Q27E
c.79C>G
3 papers
NM_005368.3
p.D61A
c.182A>C
3 papers
NM_005368.3
p.Q153L
c.458A>T
2 papers
NM_005368.3
p.M1V
c.1A>G
2 papers
NM_005368.3
p.G2R
c.4G>A
2 papers
NM_005368.3
p.L3H
c.8T>A
2 papers
NM_005368.3
p.Q9K
c.25C>A
2 papers
NM_005368.3
p.Q9L
c.26A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."