Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.G9R

RHBDF2

123 papers

Pfam Domains

iRhom1-2_Naa 128–311UCSCInactive rhomboid proteins 1/2, N-terminal
Rhomboidaa 651–790UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid 5 homolog 2

HGNC Previous Symbols

RHBDL6; TOC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005498.4
p.G9R
c.25G>C
Surrounding Variants
1 paper
NM_001005498.4
p.G9R
c.25G>A
1 paper
NM_001005498.4
p.G8fs
c.22_23fs
1 paper
NM_001005498.4
p.G8D
c.23G>A
4 papers
NM_001005498.4
p.S10R
c.28A>C
4 papers
NM_001005498.4
p.S10R
c.30C>G
4 papers
NM_001005498.4
p.S10R
c.30C>A
1 paper
NM_001005498.4
p.S13P
c.37T>C
1 paper
NM_001005498.4
p.M1_A2insFs
c.3_4insA
1 paper
NM_001005498.4
p.M1V
c.1A>G
1 paper
NM_001005498.4
p.R22Q
c.65G>A
1 paper
NM_001005498.4
p.P24_P25insFs
c.72_73insC
1 paper
NM_001005498.4
p.I31delFs
c.93delG
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