Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL3
Variant:p.G280E

RHBDL3

23 papers

Pfam Domains

EF-hand_7aa 36–100UCSCEF-hand domain pair
Rhomboidaa 208–360UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid like 3

HGNC Previous Symbol

RHBDL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138328.3
p.G280E
c.839G>A
Surrounding Variants
1 paper
NM_138328.3
p.G279R
c.835G>A
1 paper
NM_138328.3
p.G279R
c.835G>C
1 paper
NM_138328.3
p.V255M
c.763G>A
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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."