Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.T91insFs

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.T91insFs
c.272_273insCG
Surrounding Variants
1 paper
NM_002212.4
p.T91fs
c.271_272fs
1 paper
NM_002212.4
p.T91_V92delFs
c.273_274delCT
2 papers
NM_002212.4
p.Q93*
c.277C>T
1 paper
NM_002212.4
p.I94N
c.281T>A
7 papers
NM_002212.4
p.R96W
c.286C>T
1 paper
NM_002212.4
p.R85fs
c.253_254fs
1 paper
NM_002212.4
p.R85P
c.254G>C
1 paper
NM_002212.4
p.E98K
c.292G>A
1 paper
NM_002212.4
p.R85H
c.254G>A
1 paper
NM_002212.4
p.R85delFs
c.253delG
1 paper
NM_002212.4
p.E98G
c.293A>G
1 paper
NM_002212.4
p.E99Q
c.295G>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."