Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D9
Variant:p.D544D

TBC1D9

1,786 papers

Pfam Domains

GRAMaa 146–254UCSCGRAM domain
GRAMaa 293–404UCSCGRAM domain
RabGAP-TBCaa 518–722UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 9

HGNC Alias Symbols

KIAA0882; MDR1; GRAMD9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015130.3
p.D544D
c.1632C>T
Surrounding Variants
1 paper
NM_015130.3
p.Y542*
c.1626T>G
1 paper
NM_015130.3
p.Y542*
c.1626T>A
1 paper
NM_015130.3
p.E547*
c.1639G>T
8 papers
NM_015130.3
p.E547K
c.1639G>A
1 paper
NM_015130.3
p.P539H
c.1616C>A
1 paper
NM_015130.3
p.G551G
c.1653G>A
1 paper
NM_015130.3
p.T537R
c.1610C>G
1 paper
NM_015130.3
p.A536insFs
c.1607_1608insG
1 paper
NM_015130.3
p.Y553Y
c.1659T>C
1 paper
NM_015130.3
p.N554S
c.1661A>G
1 paper
NM_015130.3
p.A556T
c.1666G>A
1 paper
NM_015130.3
p.A531V
c.1592C>T
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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."