Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D17
Variant:p.E360V

TBC1D17

49 papers

Pfam Domains

PH_RBDaa 7–205UCSCRab-binding domain (RBD)
RabGAP-TBCaa 313–542UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 17

HGNC Alias Symbol

FLJ12168

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024682.3
p.E360V
c.1079A>T
Surrounding Variants
1 paper
NM_024682.3
p.E393D
c.1179G>C
1 paper
NM_024682.3
p.R341C
c.1021C>T
1 paper
NM_024682.3
p.R316Q
c.947G>A
1 paper
NM_024682.3
p.R316W
c.946C>T
1 paper
NM_024682.3
p.G415Splc
c.1244-22G>T
1 paper
NM_024682.3
p.P426L
c.1277C>T
2 papers
NM_024682.3
p.S308L
c.923C>T
1 paper
NM_024682.3
p.V448M
c.1342G>A
1 paper
NM_024682.3
p.R288H
c.863G>A
1 paper
NM_024682.3
p.V448_Q449Splc
c.1345-15C>T
1 paper
NM_024682.3
p.M459T
c.1376T>C
1 paper
NM_024682.3
p.E258D
c.774G>C
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