Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK

RABEPK

469 papers

Pfam Domains

Kelch_2aa 30–82UCSCKelch motif
Kelch_KLHDC2_KLHL20_DRC7aa 97–304UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

Rab9 effector protein with kelch motifs

HGNC Alias Symbols

RAB9P40; bA65N13.1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 197 variants
4 papers
NM_005833.4
p.L4L
c.12G>C
4 papers
NM_005833.4
p.H73Y
c.217C>T
3 papers
NM_005833.4
p.A45V
c.134C>T
2 papers
NM_005833.4
p.Q3H
c.9A>C
2 papers
NM_005833.4
p.Q3H
c.9A>T
2 papers
NM_005833.4
p.R14K
c.41G>A
2 papers
NM_005833.4
p.R31*
c.91C>T
2 papers
NM_005833.4
p.S37S
c.111A>T
2 papers
NM_005833.4
p.P40T
c.118C>A
2 papers
NM_005833.4
p.P40L
c.119C>T
2 papers
NM_005833.4
p.G82delFs
c.246delC
2 papers
NM_005833.4
p.R86Q
c.257G>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."