Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D12
Variant:p.I442N

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.I442N
c.1325T>A
Surrounding Variants
1 paper
NM_015188.2
p.R446Q
c.1337G>A
1 paper
NM_015188.2
p.N467S
c.1400A>G
1 paper
NM_015188.2
p.R472H
c.1415G>A
1 paper
NM_015188.2
p.S473N
c.1418G>A
1 paper
NM_015188.2
p.R478*
c.1432C>T
1 paper
NM_015188.2
p.S488N
c.1463G>A
1 paper
NM_015188.2
p.S404Splc
c.1212-5T>C
1 paper
NM_015188.2
p.E507Splc
c.1519+1822A>G
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