Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF1
Variant:p.R5C

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.R5C
c.13C>T
Surrounding Variants
1 paper
NM_022450.5
p.S2S
c.6T>C
1 paper
NM_022450.5
p.S2N
c.5G>A
1 paper
NM_022450.5
p.R14H
c.41G>A
1 paper
NM_022450.5
p.K16T
c.47A>C
1 paper
NM_022450.5
p.I24T
c.71T>C
2 papers
NM_022450.5
p.T31M
c.92C>T
1 paper
NM_022450.5
p.H58Y
c.172C>T
1 paper
NM_022450.5
p.R68W
c.202C>T
1 paper
NM_022450.5
p.R68G
c.202C>G
1 paper
NM_022450.5
p.R103H
c.308G>A
1 paper
NM_022450.5
p.R112C
c.334C>T
1 paper
NM_022450.5
p.K117R
c.350A>G
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