Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.V99A

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.V99A
c.296T>C
Surrounding Variants
1 paper
NM_001267571.2
p.A87V
c.260C>T
1 paper
NM_001267571.2
p.E112A
c.335A>C
1 paper
NM_001267571.2
p.I120I
c.360T>C
1 paper
NM_001267571.2
p.D72G
c.215A>G
1 paper
NM_001267571.2
p.R39Q
c.116G>A
1 paper
NM_001267571.2
p.E33D
c.99A>T
1 paper
NM_001267571.2
p.E33D
c.99A>C
1 paper
NM_001267571.2
p.E19*
c.55G>T
1 paper
NM_001267571.2
p.M1T
c.2T>C
3 papers
NM_001267571.2
p.M1V
c.1A>G
1 paper
NM_001267571.2
p.K127M
c.380A>T
1 paper
NM_001267571.2
p.Q128E
c.382C>G
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