Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.N427N

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.N427N
c.1281C>T
Surrounding Variants
1 paper
NM_001005498.4
p.V420M
c.1258G>A
1 paper
NM_001005498.4
p.R412W
c.1234C>T
1 paper
NM_001005498.4
p.V410A
c.1229T>C
1 paper
NM_001005498.4
p.G441V
c.1322G>T
1 paper
NM_001005498.4
p.I454M
c.1362C>G
1 paper
NM_001005498.4
p.Q403delFs
c.1209delC
1 paper
NM_001005498.4
p.E465*
c.1393G>T
1 paper
NM_001005498.4
p.R466W
c.1396C>T
1 paper
NM_001005498.4
p.R466Q
c.1397G>A
1 paper
NM_001005498.4
p.C392G
c.1174T>G
1 paper
NM_001005498.4
p.S477F
c.1430C>T
1 paper
NM_001005498.4
p.V384A
c.1151T>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."