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.W211*

c.632G>A

Surrounding Variants

1 paper

NM_001064.4

p.W211*

c.633G>A

1 paper

NM_001064.4

p.V216insFs

c.646_647insT

1 paper

NM_001064.4

p.K226N

c.678G>T

1 paper

NM_001064.4

p.K232T

c.695A>C

1 paper

NM_001064.4

p.H233Y

c.697C>T

1 paper

NM_001064.4

p.T236P

c.706A>C

1 paper

NM_001064.4

p.I238V

c.712A>G

1 paper

NM_001064.4

p.G245R

c.733G>C

3 papers

NM_001064.4

p.R246Q

c.737G>A

1 paper

NM_001064.4

p.A208A

c.624C>T

1 paper

NM_001064.4

p.V251I

c.751G>A

1 paper

NM_001064.4

p.R205W

c.613C>T