Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK
Variant:p.G82delFs

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
Selected Variant
2 papers
NM_005833.4
p.G82delFs
c.246delC
Surrounding Variants
1 paper
NM_005833.4
p.C80F
c.239G>T
1 paper
NM_005833.4
p.R86W
c.256C>T
2 papers
NM_005833.4
p.R86Q
c.257G>A
2 papers
NM_005833.4
p.Y87H
c.259T>C
1 paper
NM_005833.4
p.L77_K81del0
c.231_242del12
1 paper
NM_005833.4
p.D76D
c.228C>T
1 paper
NM_005833.4
p.L77_K81del5
c.229_242del15
1 paper
NM_005833.4
p.E88K
c.262G>A
1 paper
NM_005833.4
p.E88*
c.262G>T
1 paper
NM_005833.4
p.D76A
c.227A>C
1 paper
NM_005833.4
p.H89insFs
c.265_266insT
1 paper
NM_005833.4
p.W75_D76del2
c.223_227del6
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