Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.R588G

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.R588G
c.1762C>G
Surrounding Variants
1 paper
NM_001267571.2
p.E596K
c.1786G>A
1 paper
NM_001267571.2
p.E617K
c.1849G>A
1 paper
NM_001267571.2
p.R631W
c.1891C>T
1 paper
NM_001267571.2
p.R631Q
c.1892G>A
1 paper
NM_001267571.2
p.R642H
c.1925G>A
1 paper
NM_001267571.2
p.Q644*
c.1930C>T
2 papers
NM_001267571.2
p.R668C
c.2002C>T
1 paper
NM_001267571.2
p.R697Q
c.2090G>A
1 paper
NM_001267571.2
p.G710S
c.2128G>A
1 paper
NM_001267571.2
p.L535I
c.1603C>A
2 papers
NM_001267571.2
p.L499R
c.1496T>G
1 paper
NM_001267571.2
p.E474K
c.1420G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."