Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D17

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
1–12 of 39 variants
2 papers
NM_024682.3
p.E76K
c.226G>A
2 papers
NM_024682.3
p.S308L
c.923C>T
1 paper
NM_024682.3
p.Y16S
c.47A>C
1 paper
NM_024682.3
p.Y24*
c.72T>A
1 paper
NM_024682.3
p.K40_D41Splc
c.121-6C>T
1 paper
NM_024682.3
p.D56N
c.166G>A
1 paper
NM_024682.3
p.E76Q
c.226G>C
1 paper
NM_024682.3
p.R96L
c.287G>T
1 paper
NM_024682.3
p.L99P
c.296T>C
1 paper
NM_024682.3
p.E103D
c.309G>C
1 paper
NM_024682.3
p.E103D
c.309G>T
1 paper
NM_024682.3
p.E109Q
c.325G>C
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