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_001145934.2

p.Y7C

c.20A>G

Surrounding Variants

1 paper

NM_012253.4

p.P72T

c.214C>A

2 papers

NM_012253.4

p.S54del1

c.160_161delTCT

1 paper

NM_012253.4

p.D76N

c.226G>A

1 paper

NM_012253.4

p.D76E

c.228C>A

1 paper

NM_012253.4

p.D76E

c.228C>G

3 papers

NM_012253.4

p.D90delFs

c.268delG

1 paper

NM_012253.4

p.D90fs

c.268_269fs

1 paper

NM_012253.4

p.F113L

c.337T>C

1 paper

NM_012253.4

p.E131K

c.391G>A

1 paper

NM_012253.4

p.V134I

c.400G>A

1 paper

NM_001145934.2

p.V78L

c.232G>C

2 papers

NM_012253.4

p.A151_F153delFs

c.453_457del5