Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D12

TBC1D12

53 papers

Pfam Domains

RabGAP-TBCaa 487–712UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 12

HGNC Alias Symbol

KIAA0608

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
3 papers
NM_015188.2
p.I560F
c.1678A>T
2 papers
NM_015188.2
p.A58_E63ins2
c.172_189dup18
2 papers
NM_015188.2
p.C227S
c.679T>A
2 papers
NM_015188.2
p.C227S
c.680G>C
1 paper
NM_015188.2
p.P4A
c.10C>G
1 paper
NM_015188.2
p.N14K
c.42C>A
1 paper
NM_015188.2
p.N14K
c.42C>G
1 paper
NM_015188.2
p.P15T
c.43C>A
1 paper
NM_015188.2
p.L17_P19delFs
c.49_55del7
1 paper
NM_015188.2
p.V26A
c.77T>C
1 paper
NM_015188.2
p.T36T
c.108G>A
1 paper
NM_015188.2
p.P49_E55del7
c.145_164del21
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