Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1L
Variant:p.K519E

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
5 papers
NM_001366446.1
p.K519E
c.1555A>G
Surrounding Variants
1 paper
NM_001366446.1
p.K519delFs
c.1555_1556delAA
1 paper
NM_001366446.1
p.K508E
c.1522A>G
1 paper
NM_001366446.1
p.W520Splc
c.1559+32A>G
1 paper
NM_001366446.1
p.G497R
c.1489G>A
5 papers
NM_001366446.1
p.S496G
c.1486A>G
1 paper
NM_001366446.1
p.E493G
c.1478A>G
1 paper
NM_001366446.1
p.E489Splc
c.1466-1G>A
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