Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.D201_W202delFs

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.D201_W202delFs
c.602_605del4
Surrounding Variants
1 paper
NM_002212.4
p.G207R
c.619G>C
2 papers
NM_002212.4
p.G196R
c.586G>C
2 papers
NM_002212.4
p.G196R
c.586G>A
3 papers
NM_002212.4
p.A194T
c.580G>A
1 paper
NM_002212.4
p.S190G
c.568A>G
1 paper
NM_002212.4
p.R188*
c.562C>T
1 paper
NM_002212.4
p.A183A
c.549G>A
1 paper
NM_002212.4
p.V182fs
c.544_545fs
1 paper
NM_002212.4
p.V179delins
c.537delinsCGGA
1 paper
NM_002212.4
p.V179D
c.536T>A
1 paper
NM_002212.4
p.V179F
c.535G>T
1 paper
NM_002212.4
p.V179L
c.535G>C
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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."