Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D9B
Variant:p.R622H

TBC1D9B

82 papers

Pfam Domains

GRAMaa 142–250UCSCGRAM domain
GRAMaa 288–399UCSCGRAM domain
RabGAP-TBCaa 511–715UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 9B

HGNC Alias Symbols

KIAA0676; GRAMD9B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015043.4
p.R622H
c.1865G>A
Surrounding Variants
1 paper
NM_015043.4
p.V633V
c.1899G>A
1 paper
NM_015043.4
p.L604_L605del2
c.1810_1814del6
1 paper
NM_015043.4
p.L636L
c.1906C>T
1 paper
NM_015043.4
p.E655K
c.1963G>A
1 paper
NM_015043.4
p.G661W
c.1981G>T
2 papers
NM_015043.4
p.V706I
c.2116G>A
1 paper
NM_015043.4
p.V579V
c.1737G>A
1 paper
NM_015043.4
p.H564H
c.1692C>T
1 paper
NM_015043.4
p.H531Q
c.1593C>G
1 paper
NM_015043.4
p.H531Q
c.1593C>A
1 paper
NM_015043.4
p.N526K
c.1578T>G
1 paper
NM_015043.4
p.N526K
c.1578T>A
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