Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF1
Variant:p.A164D

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.A164D
c.491C>A
Surrounding Variants
1 paper
NM_022450.5
p.I156V
c.466A>G
1 paper
NM_022450.5
p.P178P
c.534A>T
1 paper
NM_022450.5
p.S188F
c.563C>T
1 paper
NM_022450.5
p.F199C
c.596T>G
1 paper
NM_022450.5
p.R206H
c.617G>A
2 papers
NM_022450.5
p.R217Q
c.650G>A
1 paper
NM_022450.5
p.A218V
c.653C>T
1 paper
NM_022450.5
p.D230delFs
c.688delC
1 paper
NM_022450.5
p.D230fs
c.688_689fs
1 paper
NM_022450.5
p.R239Q
c.716G>A
1 paper
NM_022450.5
p.R265W
c.793C>T
1 paper
NM_022450.5
p.G146W
c.436G>T
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