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.I225T

c.674T>C

Surrounding Variants

2 papers

NM_012253.4

p.E229A

c.686A>C

1 paper

NM_012253.4

p.E249K

c.745G>A

1 paper

NM_012253.4

p.Q253R

c.758A>G

1 paper

NM_012253.4

p.Y283D

c.847T>G

1 paper

NM_001145934.2

p.K152fs

c.454_455fs

1 paper

NM_001145934.2

p.H151_P153delFs

c.453_457del5

1 paper

NM_012253.4

p.W182R

c.544T>C

1 paper

NM_012253.4

p.E178G

c.533A>G

1 paper

NM_001145934.2

p.R101C

c.301C>T

1 paper

NM_012253.4

p.N156I

c.467A>T

2 papers

NM_012253.4

p.A151_F153delFs

c.453_457del5

1 paper

NM_012253.4

p.V134I

c.400G>A