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.D501E

c.1503C>A

Surrounding Variants

1 paper

NM_001064.4

p.D501E

c.1503C>G

1 paper

NM_001064.4

p.T504S

c.1510A>T

1 paper

NM_001064.4

p.T504S

c.1511C>G

1 paper

NM_001064.4

p.S498C

c.1492A>T

4 papers

NM_001064.4

p.H513Q

c.1539C>G

4 papers

NM_001064.4

p.H513Q

c.1539C>A

2 papers

NM_001064.4

p.K493N

c.1479G>T

2 papers

NM_001064.4

p.K493N

c.1479G>C

1 paper

NM_001064.4

p.A492S

c.1474G>T

1 paper

NM_001064.4

p.G490R

c.1468G>C

1 paper

NM_001064.4

p.G490R

c.1468G>A

1 paper

NM_001064.4

p.N483I

c.1448A>T