Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK
Variant:p.R60G

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.R60G
c.178A>G
Surrounding Variants
1 paper
NM_005833.4
p.N59K
c.177C>G
1 paper
NM_005833.4
p.R60K
c.179G>A
1 paper
NM_005833.4
p.R60T
c.179G>C
1 paper
NM_005833.4
p.N59I
c.176A>T
1 paper
NM_005833.4
p.N59ins5
c.175_176ins15
1 paper
NM_005833.4
p.P58_N59insFs
c.174_175insT
1 paper
NM_005833.4
p.F62I
c.184T>A
1 paper
NM_005833.4
p.F62delFs
c.185_186delTC
1 paper
NM_005833.4
p.D64A
c.191A>C
1 paper
NM_005833.4
p.D64E
c.192C>A
1 paper
NM_005833.4
p.H66Y
c.196C>T
1 paper
NM_005833.4
p.V53V
c.159T>C
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