Varaico: Literature-Extracted Genetic Variants

Gene:TKTL2
Variant:p.I300V

TKTL2

52 papers

Pfam Domains

Transketolase_Naa 15–286UCSCTransketolase, thiamine diphosphate binding domain
Transket_pyraa 317–482UCSCTransketolase, pyrimidine binding domain
Transketolase_Caa 494–616UCSCTransketolase, C-terminal domain

Gene Aliases

HGNC Name

transketolase like 2

HGNC Alias Symbols

FLJ32975; DKFZP434L1717

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032136.5
p.I300V
c.898A>G
Surrounding Variants
1 paper
NM_032136.5
p.P293P
c.879T>A
1 paper
NM_032136.5
p.M307I
c.921G>T
1 paper
NM_032136.5
p.M307I
c.921G>C
1 paper
NM_032136.5
p.M307I
c.921G>A
1 paper
NM_032136.5
p.P310Q
c.929C>A
2 papers
NM_032136.5
p.Y325fs
c.973_974fs
2 papers
NM_032136.5
p.Y325delFs
c.974_975delAT
1 paper
NM_032136.5
p.A328V
c.983C>T
1 paper
NM_032136.5
p.E269*
c.805G>T
1 paper
NM_032136.5
p.M347I
c.1041G>T
1 paper
NM_032136.5
p.M347I
c.1041G>C
1 paper
NM_032136.5
p.M347I
c.1041G>A
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