Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D30
Variant:p.P713L

TBC1D30

38 papers

Pfam Domains

RabGAP-TBCaa 3–199UCSCRab-GTPase-TBC domain
RabGAP-TBCaa 252–476UCSCRab-GTPase-TBC domain
DUF4682aa 360–488UCSCDomain of unknown function (DUF4682)

Gene Aliases

HGNC Name

TBC1 domain family member 30

HGNC Alias Symbol

KIAA0984

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015279.2
p.P713L
c.2138C>T
Surrounding Variants
1 paper
NM_015279.2
p.P732H
c.2195C>A
1 paper
NM_015279.2
p.E734delFs
c.2201_2202delAA
1 paper
NM_015279.2
p.C678F
c.2033G>T
1 paper
NM_015279.2
p.A654V
c.1961C>T
1 paper
NM_015279.2
p.D644delFs
c.1931_1932delAT
1 paper
NM_015279.2
p.F642I
c.1924T>A
1 paper
NM_015279.2
p.V641E
c.1922T>A
1 paper
NM_015279.2
p.P640P
c.1920G>A
1 paper
NM_015279.2
p.S623R
c.1869C>A
1 paper
NM_015279.2
p.S623R
c.1869C>G
1 paper
NM_015279.2
p.S623R
c.1867A>C
1 paper
NM_015279.2
p.P611S
c.1831C>T
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