Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.D82E

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
2 papers
NM_001256821.2
p.D82E
c.246T>G
Surrounding Variants
1 paper
NM_001256821.2
p.D82E
c.246T>A
1 paper
NM_006912.6
p.D66N
c.196G>A
1 paper
NM_006912.6
p.D65N
c.193G>A
2 papers
NM_006912.6
p.R63C
c.187C>T
1 paper
NM_006912.6
p.R61S
c.183G>T
1 paper
NM_006912.6
p.R61S
c.183G>C
1 paper
NM_006912.6
p.N70Y
c.208A>T
1 paper
NM_006912.6
p.N70D
c.208A>G
1 paper
NM_006912.6
p.I60M
c.180C>G
1 paper
NM_006912.6
p.D72Y
c.214G>T
2 papers
NM_001256821.2
p.I90V
c.268A>G
NM_006912.6
p.I73V
c.217A>G
1 paper
NM_006912.6
p.Y58C
c.173A>G
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