Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.K78M

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.K78M
c.233A>T
Surrounding Variants
1 paper
NM_005368.3
p.K78R
c.233A>G
1 paper
NM_005368.3
p.K78*
c.232A>T
2 papers
NM_005368.3
p.I76I
c.228C>T
1 paper
NM_005368.3
p.K80R
c.239A>G
1 paper
NM_005368.3
p.H82N
c.244C>A
1 paper
NM_005368.3
p.H82L
c.245A>T
1 paper
NM_005368.3
p.H82Q
c.246T>G
1 paper
NM_005368.3
p.H82Q
c.246T>A
1 paper
NM_005368.3
p.G74S
c.220G>A
1 paper
NM_005368.3
p.H83Q
c.249T>G
1 paper
NM_005368.3
p.H83Q
c.249T>A
1 paper
NM_005368.3
p.E84K
c.250G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."