Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.R85H

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.R85H
c.254G>A
Surrounding Variants
1 paper
NM_002212.4
p.R85P
c.254G>C
1 paper
NM_002212.4
p.R85delFs
c.253delG
1 paper
NM_002212.4
p.R85fs
c.253_254fs
1 paper
NM_002212.4
p.H83L
c.248A>T
1 paper
NM_002212.4
p.Q82*
c.244C>T
1 paper
NM_002212.4
p.L81R
c.242T>G
2 papers
NM_002212.4
p.E80G
c.239A>G
2 papers
NM_002212.4
p.E80*
c.238G>T
1 paper
NM_002212.4
p.E80K
c.238G>A
1 paper
NM_002212.4
p.Q79fs
c.235_236fs
2 papers
NM_002212.4
p.Q79*
c.235C>T
1 paper
NM_002212.4
p.T91insFs
c.272_273insCG
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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."