Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L
Variant:p.V199_L200del1

RABGAP1L

91 papers

Pfam Domains

DUF3694aa 2–68UCSCKinesin protein
PIDaa 133–258UCSCPhosphotyrosine interaction domain (PTB/PID)
PIDaa 133–258UCSCPhosphotyrosine interaction domain (PTB/PID)
DUF3694aa 290–421UCSCKinesin protein
RabGAP-TBCaa 541–744UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

RAB GTPase activating protein 1 like

HGNC Alias Symbols

HHL; TBC1D18; KIAA0471; FLJ38519

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366446.1
p.V199_L200del1
c.597_599delGTT
Surrounding Variants
1 paper
NM_001366446.1
p.L200I
c.598T>A
1 paper
NM_001366446.1
p.L200V
c.598T>G
1 paper
NM_001366446.1
p.A192T
c.574G>A
1 paper
NM_001366446.1
p.D207insFs
c.620_621insC
1 paper
NM_001366446.1
p.S187delFs
c.560delG
1 paper
NM_001366446.1
p.E211K
c.631G>A
1 paper
NM_001366446.1
p.D184H
c.550G>C
1 paper
NM_001366446.1
p.I182insFs
c.544_545ins5
1 paper
NM_001366446.1
p.I182insFs
c.544_545ins10
1 paper
NM_001366446.1
p.G223G
c.669T>C
1 paper
NM_001366446.1
p.K237Q
c.709A>C
1 paper
NM_001366446.1
p.R253H
c.758G>A
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