Varaico: Literature-Extracted Genetic Variants

Gene:RHBDD2
Variant:p.I82F

RHBDD2

25 papers

RefSeq Summary

The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteo...

Pfam Domains

Rhomboidaa 57–203UCSCRhomboid domain
Rhomboidaa 57–203UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid domain containing 2

HGNC Previous Symbol

RHBDL7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040456.3
p.I82F
c.244A>T
Surrounding Variants
2 papers
NM_001040456.3
p.R85H
c.254G>A
2 papers
NM_001040456.3
p.A87T
c.259G>A
1 paper
NM_001040456.3
p.S75delins
c.224_225delinsTG
1 paper
NM_001040456.3
p.L63delins
c.188_189delinsTG
1 paper
NM_001040456.3
p.F109Y
c.326T>A
1 paper
NM_001040456.3
p.F114F
c.342C>T
1 paper
NM_001040456.3
p.S116S
c.348A>G
1 paper
NM_001040456.3
p.V165A
c.494T>C
1 paper
NM_001040456.3
p.A211T
c.631G>A
1 paper
NM_001040456.3
p.A211A
c.633A>C
1 paper
NM_001040456.3
p.F218S
c.653T>C
1 paper
NM_001040456.3
p.F37Y
c.110T>A
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