Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.R122L

RIT1

376 papers

RefSeq Summary

This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also coop...

Pfam Domains

Rasaa 23–184UCSCRas family
Rasaa 23–184UCSCRas family

Gene Aliases

HGNC Name

Ras like without CAAX 1

HGNC Alias Symbols

RIBB; ROC1; MGC125864; MGC125865

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_006912.6
p.R122L
c.365G>T
Surrounding Variants
3 papers
NM_006912.6
p.R122Q
c.365G>A
3 papers
NM_006912.6
p.R123C
c.367C>T
2 papers
NM_006912.6
p.R123H
c.368G>A
2 papers
NM_006912.6
p.R120Q
c.359G>A
1 paper
NM_006912.6
p.R120*
c.358C>T
2 papers
NM_006912.6
p.Y119C
c.356A>G
1 paper
NM_006912.6
p.D125G
c.374A>G
1 paper
NM_006912.6
p.D126Y
c.376G>T
1 paper
NM_006912.6
p.D126H
c.376G>C
1 paper
NM_006912.6
p.D126N
c.376G>A
1 paper
NM_006912.6
p.F114Y
c.341T>A
1 paper
NM_006912.6
p.V132E
c.395T>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."