Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D10B
Variant:p.Q244H

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
Selected Variant
1 paper
NM_015527.4
p.Q244H
c.732A>T
Surrounding Variants
1 paper
NM_015527.4
p.Q244H
c.732A>C
1 paper
NM_015527.4
p.P237_S248del12
c.709_743del36
1 paper
NM_015527.4
p.P237A
c.709C>G
1 paper
NM_015527.4
p.P254L
c.761C>T
1 paper
NM_015527.4
p.G217D
c.650G>A
1 paper
NM_015527.4
p.S272F
c.815C>T
1 paper
NM_015527.4
p.L275L
c.825C>T
3 papers
NM_015527.4
p.E211D
c.633G>T
3 papers
NM_015527.4
p.E211D
c.633G>C
3 papers
NM_015527.4
p.A209V
c.626C>T
1 paper
NM_015527.4
p.S316W
c.947C>G
1 paper
NM_015527.4
p.R139P
c.416G>C
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."