Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D8
Variant:p.Q72R

TBC1D8

108 papers

Pfam Domains

GRAMaa 145–253UCSCGRAM domain
GRAMaa 285–396UCSCGRAM domain
RabGAP-TBCaa 508–712UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 8

HGNC Alias Symbols

HBLP1; VRP; AD3; GRAMD8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330348.2
p.Q72R
c.215A>G
Surrounding Variants
1 paper
NM_001330348.2
p.I64T
c.191T>C
1 paper
NM_001330348.2
p.V46V
c.138C>A
1 paper
NM_001330348.2
p.R44C
c.130C>T
1 paper
NM_001330348.2
p.R44S
c.130C>A
1 paper
NM_001330348.2
p.G43fs
c.127_128fs
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