Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF1
Variant:p.Q631*

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.Q631*
c.1891C>T
Surrounding Variants
1 paper
NM_022450.5
p.C629_S630delFs
c.1887_1888delAG
1 paper
NM_022450.5
p.L642V
c.1924C>G
1 paper
NM_022450.5
p.A664T
c.1990G>A
2 papers
NM_022450.5
p.G665W
c.1993G>T
3 papers
NM_022450.5
p.G665W
c.1993G>T
1 paper
NM_022450.5
p.G605R
c.1813G>C
1 paper
NM_022450.5
p.R597W
c.1789C>T
1 paper
NM_022450.5
p.D591D
c.1773C>T
1 paper
NM_022450.5
p.A728S
c.2182G>T
1 paper
NM_022450.5
p.R743W
c.2227C>T
1 paper
NM_022450.5
p.R746H
c.2237G>A
1 paper
NM_022450.5
p.W766_I767delFs
c.2296_2299del4
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