Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.V179F

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.V179F
c.535G>T
Surrounding Variants
1 paper
NM_002212.4
p.V179L
c.535G>C
1 paper
NM_002212.4
p.V179D
c.536T>A
1 paper
NM_002212.4
p.Q178*
c.532C>T
1 paper
NM_002212.4
p.V179delins
c.537delinsCGGA
1 paper
NM_002212.4
p.L176P
c.527T>C
1 paper
NM_002212.4
p.V182fs
c.544_545fs
1 paper
NM_002212.4
p.S175A
c.523T>G
1 paper
NM_002212.4
p.S174A
c.520T>G
1 paper
NM_002212.4
p.E168D
c.504A>T
1 paper
NM_002212.4
p.I167N
c.500T>A
1 paper
NM_002212.4
p.S166fs
c.496_497fs
1 paper
NM_002212.4
p.S166delFs
c.497delG
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