Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.P101R

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.P101R
c.302C>G
Surrounding Variants
1 paper
NM_005368.3
p.V102L
c.304G>T
1 paper
NM_005368.3
p.V102L
c.304G>C
1 paper
NM_005368.3
p.V102M
c.304G>A
1 paper
NM_005368.3
p.I100insFs
c.299_300ins5
1 paper
NM_005368.3
p.V102E
c.305T>A
1 paper
NM_005368.3
p.Y104N
c.310T>A
1 paper
NM_005368.3
p.H98Q
c.294C>G
1 paper
NM_005368.3
p.H98Q
c.294C>A
1 paper
NM_005368.3
p.H98Y
c.292C>T
1 paper
NM_005368.3
p.K97M
c.290A>T
1 paper
NM_005368.3
p.E106K
c.316G>A
1 paper
NM_005368.3
p.T96T
c.288C>T
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