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.A403_A404insT

c.1207_1211ins3

Surrounding Variants

1 paper

NM_001064.4

p.R401H

c.1202G>A

1 paper

NM_001064.4

p.S408N

c.1223G>A

1 paper

NM_001064.4

p.R395G

c.1183C>G

1 paper

NM_001064.4

p.F393L

c.1179C>G

1 paper

NM_001064.4

p.F393L

c.1179C>A

1 paper

NM_001064.4

p.F393L

c.1177T>C

1 paper

NM_001064.4

p.A390delFs

c.1168delC

1 paper

NM_001064.4

p.F389insFs

c.1167dupT

1 paper

NM_001064.4

p.C417R

c.1249T>C

1 paper

NM_001064.4

p.T388I

c.1163C>T

1 paper

NM_001064.4

p.T388N

c.1163C>A

1 paper

NM_001064.4

p.P384delFs

c.1152delG