Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL3

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
1–12 of 24 variants
2 papers
NM_138328.3
p.G52D
c.155G>A
1 paper
NM_138328.3
p.V11V
c.33G>A
1 paper
NM_138328.3
p.E22A
c.65A>C
1 paper
NM_138328.3
p.E28K
c.82G>A
1 paper
NM_138328.3
p.A33A
c.99G>A
1 paper
NM_138328.3
p.W39*
c.116G>A
1 paper
NM_138328.3
p.D71G
c.212A>G
1 paper
NM_138328.3
p.P72P
c.216G>A
1 paper
NM_138328.3
p.L78P
c.233T>C
1 paper
NM_138328.3
p.L81P
c.242T>C
1 paper
NM_138328.3
p.R116R
c.348C>T
1 paper
NM_138328.3
p.R137H
c.410G>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."