Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.W792*

TBC1D2

61 papers

Pfam Domains

PHaa 46–140UCSCPH domain
RabGAP-TBCaa 628–837UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 2

HGNC Alias Symbols

PARIS1; TBC1D2A; Armus

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001267571.2
p.W792*
c.2375G>A
Surrounding Variants
1 paper
NM_001267571.2
p.W792*
c.2376G>A
1 paper
NM_001267571.2
p.F790S
c.2369T>C
1 paper
NM_001267571.2
p.L807L
c.2421T>A
1 paper
NM_001267571.2
p.A776V
c.2327C>T
1 paper
NM_001267571.2
p.R850C
c.2548C>T
2 papers
NM_001267571.2
p.T754K
c.2261C>A
1 paper
NM_001267571.2
p.L753M
c.2257C>A
1 paper
NM_001267571.2
p.A746T
c.2236G>A
1 paper
NM_001267571.2
p.M744T
c.2231T>C
1 paper
NM_001267571.2
p.R879W
c.2635C>T
1 paper
NM_001267571.2
p.R888Q
c.2663G>A
1 paper
NM_001267571.2
p.R894Q
c.2681G>A
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