Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L
Variant:p.I717fs

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.I717fs
c.2149_2150fs
Surrounding Variants
2 papers
NM_001366446.1
p.E723G
c.2168A>G
1 paper
NM_001366446.1
p.L703V
c.2107C>G
1 paper
NM_001366446.1
p.F700L
c.2100T>A
1 paper
NM_001366446.1
p.F700L
c.2100T>G
1 paper
NM_001366446.1
p.F700L
c.2098T>C
1 paper
NM_001366446.1
p.M694I
c.2082G>A
1 paper
NM_001366446.1
p.M694I
c.2082G>C
1 paper
NM_001366446.1
p.M694I
c.2082G>T
1 paper
NM_001366446.1
p.H682Y
c.2044C>T
1 paper
NM_001366446.1
p.F667S
c.2000T>C
1 paper
NM_001366446.1
p.E661*
c.1981G>T
1 paper
NM_001366446.1
p.R653K
c.1958G>A
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