Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L
Variant:p.E126*

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.E126*
c.376G>T
Surrounding Variants
1 paper
NM_001366446.1
p.E125D
c.375A>T
1 paper
NM_001366446.1
p.P117delFs
c.349delC
1 paper
NM_001366446.1
p.L137V
c.409T>G
1 paper
NM_001366446.1
p.G138*
c.412G>T
1 paper
NM_001366446.1
p.C139Y
c.416G>A
1 paper
NM_001366446.1
p.K141E
c.421A>G
1 paper
NM_001366446.1
p.P145L
c.434C>T
1 paper
NM_001366446.1
p.R146H
c.437G>A
2 papers
NM_001366446.1
p.R153W
c.457C>T
1 paper
NM_001366446.1
p.Y171insFs
c.512_513ins4
1 paper
NM_001366446.1
p.V175G
c.524T>G
1 paper
NM_001366446.1
p.G178insFs
c.533_534insGT
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