Varaico: Literature-Extracted Genetic Variants

Gene:DIRAS3
Variant:p.V48A

DIRAS3

47 papers

RefSeq Summary

This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts ...

Pfam Domains

Rasaa 39–201UCSCRas family

Gene Aliases

HGNC Name

DIRAS family GTPase 3

HGNC Previous Symbol

ARHI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004675.5
p.V48A
c.143T>C
Surrounding Variants
1 paper
NM_004675.5
p.G49R
c.145G>C
1 paper
NM_004675.5
p.G49R
c.145G>A
2 papers
NM_004675.5
p.A46V
c.137C>T
1 paper
NM_004675.5
p.A46G
c.137C>G
1 paper
NM_004675.5
p.A46T
c.136G>A
2 papers
NM_004675.5
p.S51N
c.152G>A
1 paper
NM_004675.5
p.T52M
c.155C>T
1 paper
NM_004675.5
p.R39H
c.116G>A
1 paper
NM_004675.5
p.A58A
c.174G>A
1 paper
NM_004675.5
p.K34*
c.100A>T
1 paper
NM_004675.5
p.H64D
c.190C>G
1 paper
NM_004675.5
p.H32Y
c.94C>T
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