Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK
Variant:p.V53V

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.V53V
c.159T>C
Surrounding Variants
1 paper
NM_005833.4
p.V53_G54delFs
c.157_160del4
1 paper
NM_005833.4
p.V50_F51insFs
c.150_151ins4
1 paper
NM_005833.4
p.P58_N59insFs
c.174_175insT
1 paper
NM_005833.4
p.N59ins5
c.175_176ins15
1 paper
NM_005833.4
p.N59I
c.176A>T
1 paper
NM_005833.4
p.N59K
c.177C>G
1 paper
NM_005833.4
p.R60G
c.178A>G
1 paper
NM_005833.4
p.R60K
c.179G>A
1 paper
NM_005833.4
p.R60T
c.179G>C
3 papers
NM_005833.4
p.A45V
c.134C>T
1 paper
NM_005833.4
p.F62I
c.184T>A
1 paper
NM_005833.4
p.F62delFs
c.185_186delTC
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