Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.P47insFs

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.P47insFs
c.139_140insGA
Surrounding Variants
1 paper
NM_002212.4
p.T45insFs
c.134_135insC
1 paper
NM_002212.4
p.V49V
c.147G>C
1 paper
NM_002212.4
p.H50insFs
c.148_149insA
1 paper
NM_002212.4
p.A51P
c.151G>C
1 paper
NM_002212.4
p.G40delFs
c.120delG
1 paper
NM_002212.4
p.E39_G40insFs
c.117_118ins5
1 paper
NM_002212.4
p.G40_E41ins4
c.118_122ins12
1 paper
NM_002212.4
p.I53delFs
c.158_159delGA
1 paper
NM_002212.4
p.V37_F38delFs
c.111_112delAC
2 papers
NM_002212.4
p.C56R
c.166T>C
1 paper
NM_002212.4
p.V37fs
c.109_110fs
1 paper
NM_002212.4
p.S36S
c.108T>C
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