Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D12
Variant:p.A52T

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
Selected Variant
1 paper
NM_015188.2
p.A52T
c.154G>A
Surrounding Variants
1 paper
NM_015188.2
p.D53N
c.157G>A
2 papers
NM_015188.2
p.A58_E63ins2
c.172_189dup18
1 paper
NM_015188.2
p.P49_E55del0
c.147_164del18
1 paper
NM_015188.2
p.P49_E55del7
c.145_164del21
1 paper
NM_015188.2
p.T36T
c.108G>A
1 paper
NM_015188.2
p.Q71R
c.212A>G
1 paper
NM_015188.2
p.V26A
c.77T>C
1 paper
NM_015188.2
p.L17_P19delFs
c.49_55del7
1 paper
NM_015188.2
p.P15T
c.43C>A
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.P98R
c.293C>G
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