Varaico: Literature-Extracted Genetic Variants

TKTL1

60 papers

RefSeq Summary

The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xy...

Pfam Domains

Transketolase_Naa 83–249UCSCTransketolase, thiamine diphosphate binding domain

Transket_pyraa 287–453UCSCTransketolase, pyrimidine binding domain

Transketolase_Caa 464–586UCSCTransketolase, C-terminal domain

Gene Aliases

HGNC Name

transketolase like 1

HGNC Alias Symbols

TKR; TKT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012253.4

p.G19D

c.56G>A

Surrounding Variants

1 paper

NM_012253.4

p.P11P

c.33G>A

1 paper

NM_012253.4

p.R7K

c.20G>A

1 paper

NM_012253.4

p.A2V

c.5C>T

1 paper

NM_012253.4

p.I36I

c.108C>T

1 paper

NM_012253.4

p.M1T

c.2T>C

1 paper

NM_012253.4

p.S43N

c.128G>A

1 paper

NM_012253.4

p.G45D

c.134G>A

2 papers

NM_012253.4

p.S54del1

c.160_161delTCT

1 paper

NM_001145934.2

p.Y7C

c.20A>G

1 paper

NM_012253.4

p.P72T

c.214C>A

1 paper

NM_012253.4

p.D76N

c.226G>A

1 paper

NM_012253.4

p.D76E

c.228C>A