Varaico: Literature-Extracted Genetic Variants

Gene:RABEP2
Variant:p.S204A

RABEP2

38 papers

Pfam Domains

Rabaptinaa 19–184UCSCRabaptin
Rab5-bindaa 289–500UCSCRabaptin-like protein
Rab5-bindaa 492–546UCSCRabaptin-like protein

Gene Aliases

HGNC Name

rabaptin, RAB GTPase binding effector protein 2

HGNC Alias Symbol

FLJ23282

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024816.3
p.S204A
c.610T>G
Surrounding Variants
1 paper
NM_024816.3
p.P206P
c.618G>A
1 paper
NM_024816.3
p.S200A
c.598T>G
1 paper
NM_024816.3
p.A220S
c.658G>T
1 paper
NM_024816.3
p.R182S
c.546A>T
1 paper
NM_024816.3
p.R182S
c.546A>C
1 paper
NM_024816.3
p.S231R
c.691A>C
1 paper
NM_024816.3
p.S231R
c.693C>G
1 paper
NM_024816.3
p.S231R
c.693C>A
1 paper
NM_024816.3
p.T263M
c.788C>T
1 paper
NM_024816.3
p.T269M
c.806C>T
1 paper
NM_024816.3
p.E147K
c.439G>A
1 paper
NM_024816.3
p.E298*
c.892G>T
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