Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.E306_V308del0

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.E306_V308del0
c.917_922del6
Surrounding Variants
1 paper
NM_001267571.2
p.E312D
c.936G>C
2 papers
NM_001267571.2
p.R286C
c.856C>T
5 papers
NM_001267571.2
p.L253S
c.758T>C
1 paper
NM_001267571.2
p.E249V
c.746A>T
2 papers
NM_001267571.2
p.P241T
c.721C>A
1 paper
NM_001267571.2
p.R223C
c.667C>T
1 paper
NM_001267571.2
p.A338G
c.1013C>G
1 paper
NM_001267571.2
p.A339T
c.1015G>A
1 paper
NM_001267571.2
p.S347R
c.1039A>C
1 paper
NM_001267571.2
p.S347R
c.1041C>G
1 paper
NM_001267571.2
p.S347R
c.1041C>A
1 paper
NM_001267571.2
p.A352T
c.1054G>A
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