Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.I28fs

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
1 paper
NM_002212.4
p.I28fs
c.82_83fs
Surrounding Variants
1 paper
NM_002212.4
p.V26L
c.76G>T
1 paper
NM_002212.4
p.V26L
c.76G>C
1 paper
NM_002212.4
p.L25P
c.74T>C
1 paper
NM_002212.4
p.C24delFs
c.72delA
1 paper
NM_002212.4
p.Y23_C24delFs
c.67_71del5
1 paper
NM_002212.4
p.C24fs
c.70_71fs
1 paper
NM_002212.4
p.C24S
c.70T>A
1 paper
NM_002212.4
p.Y23fs
c.67_68fs
1 paper
NM_002212.4
p.G29_S31del3
c.85_92del9
1 paper
NM_002212.4
p.Y23N
c.67T>A
1 paper
NM_002212.4
p.N33S
c.98A>G
1 paper
NM_002212.4
p.F34L
c.100T>C
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