Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D12
Variant:p.C227S

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
2 papers
NM_015188.2
p.C227S
c.679T>A
Surrounding Variants
2 papers
NM_015188.2
p.C227S
c.680G>C
1 paper
NM_015188.2
p.P223P
c.669C>G
1 paper
NM_015188.2
p.G220E
c.659G>A
1 paper
NM_015188.2
p.P249fs
c.745_746fs
1 paper
NM_015188.2
p.S252L
c.755C>T
1 paper
NM_015188.2
p.A192V
c.575C>T
1 paper
NM_015188.2
p.Q283H
c.849G>C
1 paper
NM_015188.2
p.Q283H
c.849G>T
1 paper
NM_015188.2
p.P291L
c.872C>T
1 paper
NM_015188.2
p.G154A
c.461G>C
1 paper
NM_015188.2
p.R153G
c.457C>G
1 paper
NM_015188.2
p.P305T
c.913C>A
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