Varaico: Literature-Extracted Genetic Variants

Gene:DIRAS2
Variant:p.E130K

DIRAS2

28 papers

RefSeq Summary

DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004].

Pfam Domains

Rasaa 9–171UCSCRas family

Gene Aliases

HGNC Name

DIRAS family GTPase 2

HGNC Alias Symbols

Di-Ras2; DKFZp761C07121

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017594.5
p.E130K
c.388G>A
Surrounding Variants
2 papers
NM_017594.5
p.S128N
c.383G>A
1 paper
NM_017594.5
p.A136T
c.406G>A
1 paper
NM_017594.5
p.A136A
c.408G>A
1 paper
NM_017594.5
p.P115L
c.344C>T
1 paper
NM_017594.5
p.A146S
c.436G>T
1 paper
NM_017594.5
p.A146T
c.436G>A
1 paper
NM_017594.5
p.V111L
c.331G>T
1 paper
NM_017594.5
p.E149Q
c.445G>C
1 paper
NM_017594.5
p.V111L
c.331G>C
1 paper
NM_017594.5
p.G109E
c.326G>A
1 paper
NM_017594.5
p.A152T
c.454G>A
1 paper
NM_017594.5
p.E106K
c.316G>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."