Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D9
Variant:p.H492Y

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.H492Y
c.1474C>T
Surrounding Variants
1 paper
NM_015130.3
p.H492L
c.1475A>T
1 paper
NM_015130.3
p.K490N
c.1470G>T
2 papers
NM_015130.3
p.W489R
c.1465T>C
1 paper
NM_015130.3
p.E495Q
c.1483G>C
1 paper
NM_015130.3
p.Q487L
c.1460A>T
7 papers
NM_015130.3
p.Q487*
c.1459C>T
1 paper
NM_015130.3
p.Q498R
c.1493A>G
1 paper
NM_015130.3
p.E482G
c.1445A>G
1 paper
NM_015130.3
p.R509W
c.1525C>T
1 paper
NM_015130.3
p.K514N
c.1542G>C
1 paper
NM_015130.3
p.G515A
c.1544G>C
1 paper
NM_015130.3
p.P517S
c.1549C>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."