Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.K156insFs

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.K156insFs
c.467dupA
Surrounding Variants
1 paper
NM_001005498.4
p.P151S
c.451C>T
1 paper
NM_001005498.4
p.A140_P141insAA
c.418_422ins6
1 paper
NM_001005498.4
p.E139delFs
c.416delT
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.L135F
c.403C>T
1 paper
NM_001005498.4
p.L133L
c.397C>T
6 papers
NM_024599.5
p.I186T
c.557T>C
NM_001005498.4
p.I157T
c.470T>C
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."