Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D8
Variant:p.W494*

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.W494*
c.1481G>A
Surrounding Variants
1 paper
NM_001330348.2
p.S492R
c.1476C>G
1 paper
NM_001330348.2
p.S492R
c.1476C>A
1 paper
NM_001330348.2
p.S492R
c.1474A>C
2 papers
NM_001330348.2
p.F508del1
c.1522_1523delAAA
1 paper
NM_001330348.2
p.R509H
c.1526G>A
1 paper
NM_001330348.2
p.E511K
c.1531G>A
1 paper
NM_001330348.2
p.R514W
c.1540C>T
1 paper
NM_001102426.3
p.L501F
c.1501C>T
1 paper
NM_001330348.2
p.L516R
c.1547T>G
1 paper
NM_001102426.3
p.R511Q
c.1532G>A
1 paper
NM_001330348.2
p.L532L
c.1596C>T
1 paper
NM_001330348.2
p.P465S
c.1393C>T
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