Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.E80G

EIF6

73 papers

RefSeq Summary

Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a prote...

Pfam Domains

eIF-6aa 4–204UCSCeIF-6 family

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 6

HGNC Previous Symbol

ITGB4BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002212.4
p.E80G
c.239A>G
Surrounding Variants
2 papers
NM_002212.4
p.E80*
c.238G>T
1 paper
NM_002212.4
p.E80K
c.238G>A
1 paper
NM_002212.4
p.Q79fs
c.235_236fs
1 paper
NM_002212.4
p.L81R
c.242T>G
2 papers
NM_002212.4
p.Q79*
c.235C>T
1 paper
NM_002212.4
p.Q82*
c.244C>T
1 paper
NM_002212.4
p.T77T
c.231C>T
1 paper
NM_002212.4
p.H83L
c.248A>T
1 paper
NM_002212.4
p.N75K
c.225T>G
1 paper
NM_002212.4
p.N75K
c.225T>A
1 paper
NM_002212.4
p.R85P
c.254G>C
1 paper
NM_002212.4
p.R85H
c.254G>A
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