Varaico: Literature-Extracted Genetic Variants

Gene:TKTL2
Variant:p.Q371*

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.Q371*
c.1111C>T
Surrounding Variants
1 paper
NM_032136.5
p.A377V
c.1130C>T
1 paper
NM_032136.5
p.R362H
c.1085G>A
1 paper
NM_032136.5
p.R356G
c.1066A>G
1 paper
NM_032136.5
p.T386I
c.1157C>T
1 paper
NM_032136.5
p.F351S
c.1052T>C
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
1 paper
NM_032136.5
p.D402N
c.1204G>A
1 paper
NM_032136.5
p.R405Q
c.1214G>A
1 paper
NM_032136.5
p.A328V
c.983C>T
2 papers
NM_032136.5
p.Y325delFs
c.974_975delAT
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