Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D12
Variant:p.E545K

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.E545K
c.1633G>A
Surrounding Variants
1 paper
NM_015188.2
p.R553H
c.1658G>A
3 papers
NM_015188.2
p.I560F
c.1678A>T
1 paper
NM_015188.2
p.I560M
c.1680C>G
1 paper
NM_015188.2
p.Q562E
c.1684C>G
1 paper
NM_015188.2
p.G564R
c.1690G>C
1 paper
NM_015188.2
p.A577fs
c.1729_1730fs
1 paper
NM_015188.2
p.Y587F
c.1760A>T
1 paper
NM_015188.2
p.S514L
c.1541C>T
1 paper
NM_015188.2
p.L513F
c.1537C>T
1 paper
NM_015188.2
p.E507Splc
c.1519+1822A>G
1 paper
NM_015188.2
p.S488N
c.1463G>A
1 paper
NM_015188.2
p.R478*
c.1432C>T
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