Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.P49R

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.P49R
c.146C>G
Surrounding Variants
1 paper
NM_001005498.4
p.P49insFs
c.146_147insC
1 paper
NM_001005498.4
p.M47insFs
c.140_141insAA
1 paper
NM_001005498.4
p.S46N
c.137G>A
1 paper
NM_001005498.4
p.P33S
c.97C>T
1 paper
NM_001005498.4
p.I31delFs
c.93delG
1 paper
NM_001005498.4
p.P24_P25insFs
c.72_73insC
1 paper
NM_001005498.4
p.R22Q
c.65G>A
1 paper
NM_001005498.4
p.S13P
c.37T>C
4 papers
NM_001005498.4
p.S10R
c.30C>G
4 papers
NM_001005498.4
p.S10R
c.30C>A
4 papers
NM_001005498.4
p.S10R
c.28A>C
1 paper
NM_001005498.4
p.G9R
c.25G>C
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."