Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2

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
1–12 of 157 variants
4 papers
NM_001005498.4
p.S10R
c.28A>C
4 papers
NM_001005498.4
p.S10R
c.30C>G
4 papers
NM_001005498.4
p.S10R
c.30C>A
4 papers
NM_024599.5
p.P189L
c.566C>T
4 papers
NM_001005498.4
p.S189F
c.566C>T
3 papers
NM_001005498.4
p.I157T
c.470T>C
3 papers
NM_024599.5
p.I186T
c.557T>C
3 papers
NM_001005498.4
p.E528*
c.1582G>T
2 papers
NM_001005498.4
p.Q95*
c.283C>T
2 papers
NM_001005498.4
p.Q109*
c.325C>T
2 papers
NM_001005498.4
p.Q138H
c.414G>T
2 papers
NM_001005498.4
p.Q138H
c.414G>C
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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."