Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.P208L

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
2 papers
NM_024599.5
p.P208L
c.623C>T
NM_001005498.4
p.P179L
c.536C>T
Surrounding Variants
1 paper
NM_001005498.4
p.R175insFs
c.525dupG
1 paper
NM_001005498.4
p.L183L
c.547C>T
1 paper
NM_001005498.4
p.P181_P182del2
c.541_545del6
1 paper
NM_001005498.4
p.D174_R175insFs
c.522_523insA
1 paper
NM_001005498.4
p.G186_V187del2
c.556_560del6
1 paper
NM_001005498.4
p.P170L
c.509C>T
1 paper
NM_001005498.4
p.L188delFs
c.564delC
4 papers
NM_001005498.4
p.S189F
c.566C>T
1 paper
NM_001005498.4
p.S189Y
c.566C>A
1 paper
NM_001005498.4
p.L188_S189delFs
c.564_567del4
1 paper
NM_001005498.4
p.F167_R168insFs
c.501_502dupCC
1 paper
NM_001005498.4
p.A166delFs
c.498delG
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