Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.C56R

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.C56R
c.166T>C
Surrounding Variants
1 paper
NM_002212.4
p.I53delFs
c.158_159delGA
2 papers
NM_002212.4
p.I58T
c.173T>C
1 paper
NM_002212.4
p.I59T
c.176T>C
1 paper
NM_002212.4
p.G60V
c.179G>T
1 paper
NM_002212.4
p.A51P
c.151G>C
1 paper
NM_002212.4
p.R61G
c.181C>G
6 papers
NM_002212.4
p.R61L
c.182G>T
1 paper
NM_002212.4
p.H50insFs
c.148_149insA
1 paper
NM_002212.4
p.R61_M62delins
c.183_184delinsCT
1 paper
NM_002212.4
p.V49V
c.147G>C
2 papers
NM_002212.4
p.V64M
c.190G>A
1 paper
NM_002212.4
p.P47insFs
c.139_140insGA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."