Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.L19R

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.L19R
c.56T>G
Surrounding Variants
1 paper
NM_002212.4
p.N21I
c.62A>T
1 paper
NM_002212.4
p.A17P
c.49G>C
1 paper
NM_002212.4
p.A17T
c.49G>A
1 paper
NM_002212.4
p.F16delFs
c.48delA
1 paper
NM_002212.4
p.F16S
c.47T>C
1 paper
NM_002212.4
p.C15delFs
c.45delG
1 paper
NM_002212.4
p.Y23N
c.67T>A
1 paper
NM_002212.4
p.C15fs
c.43_44fs
2 papers
NM_002212.4
p.C15Y
c.44G>A
1 paper
NM_002212.4
p.Y23fs
c.67_68fs
1 paper
NM_002212.4
p.C24S
c.70T>A
1 paper
NM_002212.4
p.G14fs
c.40_41fs
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