Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK
Variant:p.R113*

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.R113*
c.337C>T
Surrounding Variants
1 paper
NM_005833.4
p.R113R
c.339A>G
1 paper
NM_005833.4
p.Q117E
c.349C>G
2 papers
NM_005833.4
p.N108S
c.323A>G
2 papers
NM_005833.4
p.A107P
c.319G>C
2 papers
NM_005833.4
p.L119Q
c.356T>A
1 paper
NM_005833.4
p.N120H
c.358A>C
2 papers
NM_005833.4
p.G105_G106insFs
c.315_316insA
1 paper
NM_005833.4
p.G105_G106delFs
c.315_318del4
1 paper
NM_005833.4
p.W102*
c.305G>A
1 paper
NM_005833.4
p.W102R
c.304T>C
1 paper
NM_005833.4
p.P98R
c.293C>G
1 paper
NM_005833.4
p.S95C
c.284C>G
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