Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.Q9L

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
2 papers
NM_005368.3
p.Q9L
c.26A>T
Surrounding Variants
2 papers
NM_005368.3
p.Q9K
c.25C>A
1 paper
NM_005368.3
p.L10W
c.29T>G
1 paper
NM_005368.3
p.W8S
c.23G>C
6 papers
NM_005368.3
p.W8*
c.23G>A
1 paper
NM_005368.3
p.V11M
c.31G>A
1 paper
NM_005368.3
p.E7A
c.20A>C
1 paper
NM_005368.3
p.E7delFs
c.19delC
1 paper
NM_005368.3
p.M1_D5Fs
c.1_15delinsATFs
1 paper
NM_005368.3
p.V11V
c.33G>A
1 paper
NM_005368.3
p.L12V
c.34C>G
1 paper
NM_005368.3
p.L12P
c.35T>C
1 paper
NM_005368.3
p.L12Q
c.35T>A
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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."