Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L
Variant:p.I47V

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.I47V
c.139A>G
Surrounding Variants
1 paper
NM_001366446.1
p.S49delFs
c.145delT
1 paper
NM_001366446.1
p.N50delFs
c.150delT
1 paper
NM_001366446.1
p.E60E
c.180A>G
1 paper
NM_001366446.1
p.R64R
c.192A>G
1 paper
NM_001366446.1
p.L74del1
c.220_221delCTT
1 paper
NM_001366446.1
p.L73F
c.217C>T
1 paper
NM_001366446.1
p.S80P
c.238T>C
1 paper
NM_001366446.1
p.S80F
c.239C>T
1 paper
NM_001366446.1
p.S80S
c.240C>A
1 paper
NM_001366446.1
p.E82V
c.245A>T
1 paper
NM_001366446.1
p.I83F
c.247A>T
1 paper
NM_001366446.1
p.H86Y
c.256C>T
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