Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_005368.3
p.M1K
c.2T>A
1 paper
NM_005368.3
p.G2W
c.4G>T
2 papers
NM_005368.3
p.G2R
c.4G>A
2 papers
NM_005368.3
p.M1V
c.1A>G
2 papers
NM_005368.3
p.L3H
c.8T>A
1 paper
NM_005368.3
p.S4insFs
c.10_11insC
3 papers
NM_005368.3
p.S4N
c.11G>A
1 paper
NM_005368.3
p.D5H
c.13G>C
1 paper
NM_005368.3
p.D5N
c.13G>A
1 paper
NM_005368.3
p.G6R
c.16G>A
1 paper
NM_005368.3
p.E7A
c.20A>C
1 paper
NM_005368.3
p.E7delFs
c.19delC
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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."