Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.S93L

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.S93L
c.278C>T
Surrounding Variants
1 paper
NM_005368.3
p.S93*
c.278C>A
1 paper
NM_005368.3
p.H94L
c.281A>T
1 paper
NM_005368.3
p.A91V
c.272C>T
1 paper
NM_005368.3
p.A91S
c.271G>T
1 paper
NM_005368.3
p.A91T
c.271G>A
1 paper
NM_005368.3
p.L90P
c.269T>C
1 paper
NM_005368.3
p.T96T
c.288C>T
1 paper
NM_005368.3
p.K97M
c.290A>T
1 paper
NM_005368.3
p.P89A
c.265C>G
2 papers
NM_005368.3
p.P89T
c.265C>A
1 paper
NM_005368.3
p.K88delFs
c.264delC
1 paper
NM_005368.3
p.K88N
c.264G>T
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