Varaico: Literature-Extracted Genetic Variants

SLC33A1

327 papers

RefSeq Summary

The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif ...

Pfam Domains

Acatnaa 74–289UCSCAcetyl-coenzyme A transporter 1

Acatnaa 281–545UCSCAcetyl-coenzyme A transporter 1

Acatnaa 309–443UCSCAcetyl-coenzyme A transporter 1

Gene Aliases

HGNC Name

solute carrier family 33 member 1

HGNC Previous Symbols

ACATN; SPG42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004733.4

p.S218_V219Fs

c.654_655delinsGFs

Surrounding Variants

1 paper

NM_004733.4

p.G224insFs

c.670_671insA

1 paper

NM_004733.4

p.S214C

c.641C>G

1 paper

NM_004733.4

p.N229ins4

c.686_687ins12

1 paper

NM_004733.4

p.S206insFs

c.616_617insT

4 papers

NM_004733.4

p.L205_S206insFs

c.615_616insT

1 paper

NM_004733.4

p.L233L

c.699G>A

1 paper

NM_004733.4

p.L205fs

c.613_614fs

1 paper

NM_004733.4

p.M204T

c.611T>C

1 paper

NM_004733.4

p.M204V

c.610A>G

1 paper

NM_004733.4

p.A201T

c.601G>A

1 paper

NM_004733.4

p.D239_F240insFs

c.717_718insAC

1 paper

NM_004733.4

p.C241delFs

c.721delA