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

1–12 of 53 variants

4 papers

NM_012253.4

p.E534G

c.1601A>G

3 papers

NM_012253.4

p.D90delFs

c.268delG

2 papers

NM_012253.4

p.S54del1

c.160_161delTCT

2 papers

NM_012253.4

p.A151_F153delFs

c.453_457del5

2 papers

NM_012253.4

p.E229A

c.686A>C

2 papers

NM_012253.4

p.V453_P457del5

c.1357_1370del15

1 paper

NM_012253.4

p.M1T

c.2T>C

1 paper

NM_012253.4

p.A2V

c.5C>T

1 paper

NM_012253.4

p.R7K

c.20G>A

1 paper

NM_012253.4

p.P11P

c.33G>A

1 paper

NM_012253.4

p.G19D

c.56G>A

1 paper

NM_012253.4

p.I36I

c.108C>T