Varaico: Literature-Extracted Genetic Variants

Gene:VIM
Variant:p.L269P

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.L269P
c.806T>C
Surrounding Variants
1 paper
NM_003380.5
p.R270_D271delFs
c.808_812del5
1 paper
NM_003380.5
p.R270fs
c.808_809fs
1 paper
NM_003380.5
p.R270C
c.808C>T
2 papers
NM_003380.5
p.R270H
c.809G>A
1 paper
NM_003380.5
p.R273C
c.817C>T
8 papers
NM_003380.5
p.R273H
c.818G>A
1 paper
NM_003380.5
p.R273_Q274insFs
c.819_820insT
1 paper
NM_003380.5
p.R273L
c.818G>T
1 paper
NM_003380.5
p.P263insFs
c.787_788insTT
2 papers
NM_003380.5
p.E277V
c.830A>T
1 paper
NM_003380.5
p.V260F
c.778G>T
1 paper
NM_003380.5
p.V279M
c.835G>A
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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."