Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L

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
1–12 of 122 variants
5 papers
NM_001366446.1
p.S496G
c.1486A>G
5 papers
NM_001366446.1
p.K519E
c.1555A>G
2 papers
NM_001366446.1
p.G12delFs
c.35delG
2 papers
NM_001366446.1
p.R153W
c.457C>T
2 papers
NM_001366446.1
p.S277G
c.829A>G
2 papers
NM_001366446.1
p.E723G
c.2168A>G
1 paper
NM_001366446.1
p.E2E
c.6G>A
1 paper
NM_001366446.1
p.A5S
c.13G>T
1 paper
NM_001366446.1
p.S14F
c.41C>T
1 paper
NM_001366446.1
p.M20I
c.60G>A
1 paper
NM_001366446.1
p.M20I
c.60G>C
1 paper
NM_001366446.1
p.M20I
c.60G>T
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