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.A44V

c.131C>T

Surrounding Variants

1 paper

NM_001064.4

p.A44T

c.130G>A

1 paper

NM_001064.4

p.C41Y

c.122G>A

2 papers

NM_001064.4

p.N65S

c.194A>G

1 paper

NM_001064.4

p.V72V

c.216G>C

1 paper

NM_001064.4

p.G36Splc

c.108-805G>A

1 paper

NM_001064.4

p.G76V

c.227G>T

2 papers

NM_001064.4

p.A84T

c.250G>A

1 paper

NM_001064.4

p.V85F

c.253G>T

1 paper

NM_001064.4

p.G90D

c.269G>A

1 paper

NM_001064.4

p.A93P

c.277G>C

1 paper

NM_001064.4

p.R101insFs

c.302_303insCG

1 paper

NM_001064.4

p.D108D

c.324C>T