Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D9
Variant:p.N130D

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
9 papers
NM_015130.3
p.N130D
c.388A>G
Surrounding Variants
1 paper
NM_015130.3
p.N130S
c.389A>G
12 papers
NM_015130.3
p.D131G
c.392A>G
1 paper
NM_015130.3
p.K128T
c.383A>C
1 paper
NM_015130.3
p.K128*
c.382A>T
1 paper
NM_015130.3
p.N127D
c.379A>G
1 paper
NM_015130.3
p.K133N
c.399G>T
1 paper
NM_015130.3
p.K133N
c.399G>C
1 paper
NM_015130.3
p.D135V
c.404A>T
1 paper
NM_015130.3
p.T138P
c.412A>C
1 paper
NM_015130.3
p.E139G
c.416A>G
1 paper
NM_015130.3
p.A144A
c.432C>T
1 paper
NM_015130.3
p.I145L
c.433A>C
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