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

1–12 of 129 variants

5 papers

NM_001064.4

p.W257ins6

c.769_770ins18

4 papers

NM_001064.4

p.D200E

c.600C>G

4 papers

NM_001064.4

p.D200E

c.600C>A

4 papers

NM_001064.4

p.M436V

c.1306A>G

4 papers

NM_001064.4

p.H513Q

c.1539C>G

4 papers

NM_001064.4

p.H513Q

c.1539C>A

3 papers

NM_001064.4

p.R246Q

c.737G>A

3 papers

NM_001064.4

p.R318C

c.952C>T

2 papers

NM_001064.4

p.N65S

c.194A>G

2 papers

NM_001064.4

p.A84T

c.250G>A

2 papers

NM_001064.4

p.W257ins2

c.769_770ins6

2 papers

NM_001064.4

p.W257ins6

c.769_770ins18