Varaico: Literature-Extracted Genetic Variants

Gene:VIM
Variant:p.R122H

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.R122H
c.365G>A
Surrounding Variants
1 paper
NM_003380.5
p.V121A
c.362T>C
1 paper
NM_003380.5
p.L124L
c.370C>T
1 paper
NM_003380.5
p.K120Q
c.358A>C
2 papers
NM_003380.5
p.K120del1
c.358_360delAAG
1 paper
NM_003380.5
p.E125G
c.374A>G
1 paper
NM_003380.5
p.D119N
c.355G>A
1 paper
NM_003380.5
p.Q126*
c.376C>T
2 papers
NM_003380.5
p.I118T
c.353T>C
1 paper
NM_003380.5
p.N128delFs
c.382_383delAA
1 paper
NM_003380.5
p.Y117D
c.349T>G
1 paper
NM_003380.5
p.N128Y
c.382A>T
2 papers
NM_003380.5
p.N116S
c.347A>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."