Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D17
Variant:p.E103D

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.E103D
c.309G>C
Surrounding Variants
1 paper
NM_024682.3
p.E103D
c.309G>T
1 paper
NM_024682.3
p.L99P
c.296T>C
1 paper
NM_024682.3
p.R96L
c.287G>T
2 papers
NM_024682.3
p.E76K
c.226G>A
1 paper
NM_024682.3
p.E76Q
c.226G>C
1 paper
NM_024682.3
p.E109Q
c.325G>C
1 paper
NM_024682.3
p.L136F
c.406C>T
1 paper
NM_024682.3
p.R158C
c.472C>T
1 paper
NM_024682.3
p.G159E
c.476G>A
1 paper
NM_024682.3
p.L165V
c.493C>G
1 paper
NM_024682.3
p.L174F
c.522G>C
1 paper
NM_024682.3
p.L174F
c.522G>T
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