Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D9
Variant:p.R175H

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
7 papers
NM_015130.3
p.R175H
c.524G>A
Surrounding Variants
1 paper
NM_015130.3
p.Q176E
c.526C>G
9 papers
NM_015130.3
p.K172N
c.516G>T
1 paper
NM_015130.3
p.K170K
c.510G>A
1 paper
NM_015130.3
p.Y180F
c.539A>T
1 paper
NM_015130.3
p.Y180Y
c.540C>T
1 paper
NM_015130.3
p.L181L
c.543C>T
1 paper
NM_015130.3
p.S182R
c.546C>A
1 paper
NM_015130.3
p.N184I
c.551A>T
1 paper
NM_015130.3
p.S165P
c.493T>C
1 paper
NM_015130.3
p.L186I
c.556C>A
1 paper
NM_015130.3
p.L186delFs
c.556_557delAG
1 paper
NM_015130.3
p.V161V
c.483C>A
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