Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.E7delFs

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.E7delFs
c.19delC
Surrounding Variants
1 paper
NM_005368.3
p.E7A
c.20A>C
1 paper
NM_005368.3
p.M1_D5Fs
c.1_15delinsATFs
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.G6R
c.16G>A
2 papers
NM_005368.3
p.Q9K
c.25C>A
2 papers
NM_005368.3
p.Q9L
c.26A>T
1 paper
NM_005368.3
p.D5H
c.13G>C
1 paper
NM_005368.3
p.D5N
c.13G>A
1 paper
NM_005368.3
p.L10W
c.29T>G
3 papers
NM_005368.3
p.S4N
c.11G>A
1 paper
NM_005368.3
p.S4insFs
c.10_11insC
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