Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D10B

TBC1D10B

44 papers

RefSeq Summary

Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide...

Pfam Domains

RabGAP-TBCaa 363–564UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 10B

HGNC Alias Symbols

DKFZP434P1750; Rab27A-GAPbeta; FLJ13130; EPI64B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
3 papers
NM_015527.4
p.A209V
c.626C>T
3 papers
NM_015527.4
p.E211D
c.633G>T
3 papers
NM_015527.4
p.E211D
c.633G>C
2 papers
NM_015527.4
p.A79_A83del0
c.237_248del12
2 papers
NM_015527.4
p.G689G
c.2067G>T
1 paper
NM_015527.4
p.A17P
c.49G>C
1 paper
NM_015527.4
p.E68Q
c.202G>C
1 paper
NM_015527.4
p.P80A
c.238C>G
1 paper
NM_015527.4
p.A81G
c.242C>G
1 paper
NM_015527.4
p.A96P
c.286G>C
1 paper
NM_015527.4
p.S97L
c.290C>T
1 paper
NM_015527.4
p.P106R
c.317C>G
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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."