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

4 papers

NM_001064.4

p.M436V

c.1306A>G

Surrounding Variants

2 papers

NM_001064.4

p.R438W

c.1312C>T

2 papers

NM_001064.4

p.Q428H

c.1284G>T

2 papers

NM_001064.4

p.Q428H

c.1284G>C

1 paper

NM_001064.4

p.Q428E

c.1282C>G

1 paper

NM_001064.4

p.S427C

c.1280C>G

1 paper

NM_001064.4

p.A462T

c.1384G>A

1 paper

NM_001064.4

p.C417R

c.1249T>C

1 paper

NM_001064.4

p.S408N

c.1223G>A

1 paper

NM_001064.4

p.A403_A404insT

c.1207_1211ins3

1 paper

NM_001064.4

p.R401H

c.1202G>A

1 paper

NM_001064.4

p.R395G

c.1183C>G

1 paper

NM_001064.4

p.F393L

c.1179C>G