Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF1
Variant:p.V392I

RHBDF1

71 papers

Pfam Domains

iRhom1-2_Naa 91–285UCSCInactive rhomboid proteins 1/2, N-terminal
Rhomboidaa 650–789UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid 5 homolog 1

HGNC Alias Symbols

EGFR-RS; FLJ2235; Dist1; iRhom1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022450.5
p.V392I
c.1174G>A
Surrounding Variants
1 paper
NM_022450.5
p.M399L
c.1195A>T
1 paper
NM_022450.5
p.M399L
c.1195A>C
1 paper
NM_022450.5
p.T380delFs
c.1140delG
1 paper
NM_022450.5
p.R378W
c.1132C>T
1 paper
NM_022450.5
p.M375L
c.1123A>T
1 paper
NM_022450.5
p.M375L
c.1123A>C
1 paper
NM_022450.5
p.E367V
c.1100A>T
1 paper
NM_022450.5
p.K362R
c.1085A>G
1 paper
NM_022450.5
p.R361C
c.1081C>T
1 paper
NM_022450.5
p.R355C
c.1063C>T
1 paper
NM_022450.5
p.P404delFs
c.1212delG
1 paper
NM_022450.5
p.F405fs
c.1213_1214fs
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