Varaico: Literature-Extracted Genetic Variants

Gene:TKTL2
Variant:p.G511G

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.G511G
c.1533A>G
Surrounding Variants
1 paper
NM_032136.5
p.A519fs
c.1555_1556fs
1 paper
NM_032136.5
p.S527F
c.1580C>T
1 paper
NM_032136.5
p.Q528E
c.1582C>G
1 paper
NM_032136.5
p.R534S
c.1600C>A
1 paper
NM_032136.5
p.P487S
c.1459C>T
1 paper
NM_032136.5
p.E480K
c.1438G>A
1 paper
NM_032136.5
p.G470E
c.1409G>A
2 papers
NM_032136.5
p.A466T
c.1396G>A
1 paper
NM_032136.5
p.G558S
c.1672G>A
1 paper
NM_032136.5
p.H460R
c.1379A>G
1 paper
NM_032136.5
p.E459E
c.1377G>A
1 paper
NM_032136.5
p.T458A
c.1372A>G
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