Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.R113H

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.R113H
c.338G>A
Surrounding Variants
1 paper
NM_001005498.4
p.R112H
c.335G>A
2 papers
NM_001005498.4
p.Q109*
c.325C>T
1 paper
NM_001005498.4
p.S119N
c.356G>A
1 paper
NM_001005498.4
p.R121delFs
c.363delG
1 paper
NM_001005498.4
p.G123S
c.367G>A
1 paper
NM_001005498.4
p.D102V
c.305A>T
2 papers
NM_001005498.4
p.Q95*
c.283C>T
1 paper
NM_001005498.4
p.L133L
c.397C>T
1 paper
NM_001005498.4
p.L135F
c.403C>T
2 papers
NM_001005498.4
p.Q138H
c.414G>T
2 papers
NM_001005498.4
p.Q138H
c.414G>C
1 paper
NM_001005498.4
p.E139delFs
c.416delT
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