Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.E60*

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.E60*
c.178G>T
Surrounding Variants
1 paper
NM_005368.3
p.E60V
c.179A>T
1 paper
NM_005368.3
p.E60D
c.180G>C
2 papers
NM_005368.3
p.D61N
c.181G>A
1 paper
NM_005368.3
p.A58A
c.174G>C
1 paper
NM_005368.3
p.A58A
c.174G>A
2 papers
NM_005368.3
p.D61G
c.182A>G
3 papers
NM_005368.3
p.D61A
c.182A>C
1 paper
NM_005368.3
p.D61E
c.183C>G
1 paper
NM_005368.3
p.A58G
c.173C>G
1 paper
NM_005368.3
p.D61E
c.183C>A
1 paper
NM_005368.3
p.A58E
c.173C>A
1 paper
NM_005368.3
p.A58P
c.172G>C
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."