Varaico: Literature-Extracted Genetic Variants

Gene:RABEPK
Variant:p.S37A

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.S37A
c.109T>G
Surrounding Variants
2 papers
NM_005833.4
p.S37S
c.111A>T
1 paper
NM_005833.4
p.Y38N
c.112T>A
1 paper
NM_005833.4
p.Y38H
c.112T>C
1 paper
NM_005833.4
p.L39L
c.115T>C
1 paper
NM_005833.4
p.L39_P41ins1
c.116_121dup6
2 papers
NM_005833.4
p.P40T
c.118C>A
1 paper
NM_005833.4
p.H34N
c.100C>A
1 paper
NM_005833.4
p.P40A
c.118C>G
1 paper
NM_005833.4
p.H34Y
c.100C>T
1 paper
NM_005833.4
p.P40S
c.118C>T
2 papers
NM_005833.4
p.P40L
c.119C>T
1 paper
NM_005833.4
p.G33_S35Fs
c.98_104delinsTCCFs
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