Varaico: Literature-Extracted Genetic Variants

Gene:VIM
Variant:p.Q246H

VIM

770 papers

RefSeq Summary

This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for m...

Pfam Domains

Filament_headaa 6–101UCSCIntermediate filament head (DNA binding) region
Filamentaa 102–410UCSCIntermediate filament protein

Gene Aliases

HGNC Name

vimentin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003380.5
p.Q246H
c.738G>T
Surrounding Variants
1 paper
NM_003380.5
p.Q246H
c.738G>C
1 paper
NM_003380.5
p.A247T
c.739G>A
1 paper
NM_003380.5
p.Q246*
c.736C>T
1 paper
NM_003380.5
p.L245L
c.735G>C
1 paper
NM_003380.5
p.Q248*
c.742C>T
1 paper
NM_003380.5
p.L245L
c.733C>T
1 paper
NM_003380.5
p.I249delins
c.746_747delinsTA
1 paper
NM_003380.5
p.I242T
c.725T>C
1 paper
NM_003380.5
p.E241G
c.722A>G
1 paper
NM_003380.5
p.Q252R
c.755A>G
1 paper
NM_003380.5
p.V254D
c.761T>A
1 paper
NM_003380.5
p.I256V
c.766A>G
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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."