Varaico: Literature-Extracted Genetic Variants

TKT

144 papers

RefSeq Summary

This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants ...

Pfam Domains

Transketolase_Naa 14–283UCSCTransketolase, thiamine diphosphate binding domain

Transket_pyraa 313–478UCSCTransketolase, pyrimidine binding domain

Transketolase_Caa 490–612UCSCTransketolase, C-terminal domain

Gene Aliases

HGNC Name

transketolase

HGNC Alias Name

Wernicke-Korsakoff syndrome

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001064.4

p.D155A

c.464A>C

Surrounding Variants

1 paper

NM_001064.4

p.D155E

c.465C>G

1 paper

NM_001064.4

p.G154G

c.462A>T

1 paper

NM_001064.4

p.G161D

c.482G>A

1 paper

NM_001064.4

p.S162A

c.484T>G

1 paper

NM_001064.4

p.R148R

c.444A>G

1 paper

NM_001064.4

p.R148Q

c.443G>A

1 paper

NM_001064.4

p.F169S

c.506T>C

1 paper

NM_001064.4

p.A170P

c.508G>C

1 paper

NM_001064.4

p.K174N

c.522G>T

1 paper

NM_001064.4

p.K174N

c.522G>C

1 paper

NM_001064.4

p.D176A

c.527A>C

1 paper

NM_001064.4

p.I181V

c.541A>G