Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK
Variant:p.L21S

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
1 paper
NM_005833.4
p.L21S
c.62T>C
Surrounding Variants
1 paper
NM_005833.4
p.T22_G33del12
c.64_98del36
1 paper
NM_005833.4
p.T22N
c.65C>A
1 paper
NM_005833.4
p.Y19*
c.57C>A
1 paper
NM_005833.4
p.Y19D
c.55T>G
1 paper
NM_005833.4
p.G25_D26delFs
c.75_76delAG
1 paper
NM_005833.4
p.D26_S27delFs
c.77_81del5
1 paper
NM_005833.4
p.D26A
c.77A>C
2 papers
NM_005833.4
p.R31*
c.91C>T
1 paper
NM_005833.4
p.V32F
c.94G>T
1 paper
NM_005833.4
p.G33S
c.97G>A
1 paper
NM_005833.4
p.G33_S35Fs
c.98_104delinsTCCFs
1 paper
NM_005833.4
p.H34N
c.100C>A
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