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.L575V

c.1723T>G

Surrounding Variants

1 paper

NM_012253.4

p.V590A

c.1769T>C

4 papers

NM_012253.4

p.E534G

c.1601A>G

1 paper

NM_012253.4

p.I519V

c.1555A>G

1 paper

NM_001145934.2

p.F453_P457del5

c.1357_1370del15

1 paper

NM_001145934.2

p.T422A

c.1264A>G

2 papers

NM_012253.4

p.V453_P457del5

c.1357_1370del15

1 paper

NM_001145934.2

p.T372M

c.1115C>T

1 paper

NM_012253.4

p.F420I

c.1258T>A

1 paper

NM_012253.4

p.E381V

c.1142A>T

1 paper

NM_012253.4

p.A380T

c.1138G>A

1 paper

NM_012253.4

p.R369G

c.1105C>G

1 paper

NM_012253.4

p.A365G

c.1094C>G