Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D3G
Variant:p.L196F

TBC1D3G

22 papers

Pfam Domains

RabGAP-TBCaa 104–313UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 3G

HGNC Previous Name

TBC1 domain family, member 3G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001291462.2
p.L196F
c.588G>T
Surrounding Variants
1 paper
NM_001291462.2
p.L174F
c.520C>T
1 paper
NM_001291462.2
p.K256N
c.768G>T
1 paper
NM_001291462.2
p.M157I
c.471G>A
1 paper
NM_001291462.2
p.M157I
c.471G>C
1 paper
NM_001291462.2
p.M157I
c.471G>T
1 paper
NM_001291462.2
p.Q129K
c.385C>A
2 papers
NM_001291462.2
p.Q354K
c.1060C>A
1 paper
NM_001291462.2
p.D84E
c.252C>A
1 paper
NM_001291462.2
p.D84E
c.252C>G
1 paper
NM_001291462.2
p.R399W
c.1195C>T
1 paper
NM_001291462.2
p.A409T
c.1225G>A
1 paper
NM_001291462.2
p.Q431Q
c.1293G>A
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