Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK
Variant:p.L4L

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
4 papers
NM_005833.4
p.L4L
c.12G>C
Surrounding Variants
1 paper
NM_005833.4
p.L4L
c.12G>A
2 papers
NM_005833.4
p.Q3H
c.9A>C
2 papers
NM_005833.4
p.Q3H
c.9A>T
1 paper
NM_005833.4
p.P5P
c.15A>T
1 paper
NM_005833.4
p.Q3R
c.8A>G
1 paper
NM_005833.4
p.M1insFs
c.3dupG
1 paper
NM_005833.4
p.M1V
c.1A>G
1 paper
NM_005833.4
p.E8V
c.23A>T
1 paper
NM_005833.4
p.E8E
c.24A>G
1 paper
NM_005833.4
p.D11N
c.31G>A
1 paper
NM_005833.4
p.D11A
c.32A>C
1 paper
NM_005833.4
p.P13A
c.37C>G
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