Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF1
Variant:p.R443W

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.R443W
c.1327C>T
Surrounding Variants
1 paper
NM_022450.5
p.N444T
c.1331A>C
1 paper
NM_022450.5
p.Y448*
c.1344C>G
1 paper
NM_022450.5
p.Y448*
c.1344C>A
1 paper
NM_022450.5
p.Y453C
c.1358A>G
1 paper
NM_022450.5
p.G462R
c.1384G>C
1 paper
NM_022450.5
p.G462R
c.1384G>A
1 paper
NM_022450.5
p.A428T
c.1282G>A
1 paper
NM_022450.5
p.A467T
c.1399G>A
1 paper
NM_022450.5
p.M479I
c.1437G>T
1 paper
NM_022450.5
p.M479I
c.1437G>C
1 paper
NM_022450.5
p.M479I
c.1437G>A
1 paper
NM_022450.5
p.P404delFs
c.1212delG
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