Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.I186T

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
6 papers
NM_024599.5
p.I186T
c.557T>C
NM_001005498.4
p.I157T
c.470T>C
Surrounding Variants
1 paper
NM_024599.5
p.D188Y
c.562G>T
3 papers
NM_024599.5
p.D188N
c.562G>A
NM_001005498.4
p.D159N
c.475G>A
2 papers
NM_001005498.4
p.P160S
c.478C>T
5 papers
NM_024599.5
p.P189L
c.566C>T
NM_001005498.4
p.P160L
c.479C>T
1 paper
NM_001005498.4
p.L161_A162insFs
c.483_484insC
1 paper
NM_001005498.4
p.A166delFs
c.498delG
1 paper
NM_001005498.4
p.F167_R168insFs
c.501_502dupCC
1 paper
NM_001005498.4
p.P170L
c.509C>T
1 paper
NM_001005498.4
p.D174_R175insFs
c.522_523insA
1 paper
NM_001005498.4
p.R175insFs
c.525dupG
2 papers
NM_024599.5
p.P208L
c.623C>T
NM_001005498.4
p.P179L
c.536C>T
1 paper
NM_001005498.4
p.K156insFs
c.467dupA
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