Varaico: Literature-Extracted Genetic Variants

Gene:RHBDD1
Variant:p.G219Splc

RHBDD1

42 papers

Pfam Domains

Rhomboidaa 62–211UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid domain containing 1

HGNC Alias Symbols

DKFZp547E052; RHBDL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001167608.3
p.G219Splc
c.656-2A>C
Surrounding Variants
6 papers
NM_001167608.3
p.G226D
c.677G>A
1 paper
NM_001167608.3
p.G202V
c.605G>T
1 paper
NM_001167608.3
p.G198V
c.593G>T
1 paper
NM_001167608.3
p.Y254C
c.761A>G
1 paper
NM_001167608.3
p.D262G
c.785A>G
1 paper
NM_001167608.3
p.E272del1
c.814_815delGAA
1 paper
NM_001167608.3
p.R285Q
c.854G>A
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