Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L
Variant:p.E328del1

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.E328del1
c.982_983delGAA
Surrounding Variants
1 paper
NM_001366446.1
p.A326V
c.977C>T
2 papers
NM_001366446.1
p.S277G
c.829A>G
1 paper
NM_001366446.1
p.R256delFs
c.767_768delGA
1 paper
NM_001366446.1
p.R253H
c.758G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."