Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.V3D

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.V3D
c.8T>A
Surrounding Variants
4 papers
NM_002212.4
p.M1T
c.2T>C
1 paper
NM_002212.4
p.M1L
c.1A>T
1 paper
NM_002212.4
p.M1L
c.1A>C
1 paper
NM_002212.4
p.S6L
c.17C>T
2 papers
NM_002212.4
p.S6*
c.17C>A
1 paper
NM_002212.4
p.F7fs
c.19_20fs
1 paper
NM_002212.4
p.F7delFs
c.21delG
1 paper
NM_002212.4
p.F7_E8delFs
c.19_22del4
1 paper
NM_002212.4
p.N10del1
c.28_29delGTT
1 paper
NM_002212.4
p.N10_C11del1
c.29_31delAGT
1 paper
NM_002212.4
p.E12K
c.34G>A
3 papers
NM_002212.4
p.I13N
c.38T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."