Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D17
Variant:p.Y220S

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.Y220S
c.659A>C
Surrounding Variants
1 paper
NM_024682.3
p.Y220*
c.660C>A
1 paper
NM_024682.3
p.Y220*
c.660C>G
1 paper
NM_024682.3
p.P251L
c.752C>T
1 paper
NM_024682.3
p.E258D
c.774G>C
1 paper
NM_024682.3
p.E258D
c.774G>T
1 paper
NM_024682.3
p.P178L
c.533C>T
1 paper
NM_024682.3
p.R288H
c.863G>A
2 papers
NM_024682.3
p.S308L
c.923C>T
1 paper
NM_024682.3
p.R316W
c.946C>T
1 paper
NM_024682.3
p.R316Q
c.947G>A
1 paper
NM_024682.3
p.L174F
c.522G>C
1 paper
NM_024682.3
p.L174F
c.522G>T
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