Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2

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
1–12 of 64 variants
5 papers
NM_001267571.2
p.L253S
c.758T>C
3 papers
NM_001267571.2
p.M1V
c.1A>G
2 papers
NM_001267571.2
p.P241T
c.721C>A
2 papers
NM_001267571.2
p.R286C
c.856C>T
2 papers
NM_001267571.2
p.L499R
c.1496T>G
2 papers
NM_001267571.2
p.R668C
c.2002C>T
2 papers
NM_001267571.2
p.T754K
c.2261C>A
2 papers
NM_001267571.2
p.R907W
c.2719C>T
1 paper
NM_001267571.2
p.M1T
c.2T>C
1 paper
NM_001267571.2
p.E19*
c.55G>T
1 paper
NM_001267571.2
p.E33D
c.99A>T
1 paper
NM_001267571.2
p.E33D
c.99A>C
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