Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D8
Variant:p.R1094G

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
4 papers
NM_001330348.2
p.R1094G
c.3280A>G
Surrounding Variants
1 paper
NM_001330348.2
p.G1079G
c.3237G>A
1 paper
NM_001330348.2
p.F1075F
c.3225T>C
1 paper
NM_001330348.2
p.P1120S
c.3358C>T
1 paper
NM_001330348.2
p.S1125ins1
c.3373_3374insCTT
1 paper
NM_001330348.2
p.S1125ins1
c.3374_3375insCTT
1 paper
NM_001330348.2
p.A1130T
c.3388G>A
1 paper
NM_001330348.2
p.D1027N
c.3079G>A
1 paper
NM_001330348.2
p.V976I
c.2926G>A
1 paper
NM_001330348.2
p.G969R
c.2905G>C
2 papers
NM_001330348.2
p.G969R
c.2905G>A
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