Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.S347R

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.S347R
c.1041C>G
Surrounding Variants
1 paper
NM_001267571.2
p.S347R
c.1041C>A
1 paper
NM_001267571.2
p.S347R
c.1039A>C
1 paper
NM_001267571.2
p.A352T
c.1054G>A
1 paper
NM_001267571.2
p.A339T
c.1015G>A
1 paper
NM_001267571.2
p.A338G
c.1013C>G
1 paper
NM_001267571.2
p.L361V
c.1081C>G
1 paper
NM_001267571.2
p.R367Q
c.1100G>A
1 paper
NM_001267571.2
p.E399E
c.1197G>A
1 paper
NM_001267571.2
p.T430T
c.1290G>A
1 paper
NM_001267571.2
p.P433delFs
c.1298delG
1 paper
NM_001267571.2
p.E312D
c.936G>C
1 paper
NM_001267571.2
p.E306_V308del0
c.917_922del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."