Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.G130R

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.G130R
c.388G>A
Surrounding Variants
1 paper
NM_005368.3
p.Q129L
c.386A>T
1 paper
NM_005368.3
p.A128D
c.383C>A
1 paper
NM_005368.3
p.A128T
c.382G>A
1 paper
NM_005368.3
p.N133S
c.398A>G
1 paper
NM_005368.3
p.K134fs
c.400_401fs
2 papers
NM_005368.3
p.K134K
c.402G>A
1 paper
NM_005368.3
p.A135D
c.404C>A
1 paper
NM_005368.3
p.D123E
c.369C>G
1 paper
NM_005368.3
p.D123E
c.369C>A
1 paper
NM_005368.3
p.L136L
c.408G>A
2 papers
NM_005368.3
p.D123A
c.368A>C
1 paper
NM_005368.3
p.D123N
c.367G>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."