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.H355D

c.1063C>G

Surrounding Variants

1 paper

NM_001064.4

p.R358L

c.1073G>T

1 paper

NM_001064.4

p.R358P

c.1073G>C

1 paper

NM_001064.4

p.R358H

c.1073G>A

1 paper

NM_001064.4

p.S345P

c.1033T>C

1 paper

NM_001064.4

p.E366*

c.1096G>T

1 paper

NM_001064.4

p.A337T

c.1009G>A

3 papers

NM_001064.4

p.R318C

c.952C>T

1 paper

NM_001064.4

p.R302C

c.904C>T

1 paper

NM_001064.4

p.D297A

c.890A>C

1 paper

NM_001064.4

p.S295*

c.884C>G

1 paper

NM_001064.4

p.S295*

c.884C>A

1 paper

NM_001064.4

p.P288H

c.863C>A