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.S2L

c.5C>T

Surrounding Variants

1 paper

NM_004733.4

p.M1I

c.3G>T

1 paper

NM_004733.4

p.M1I

c.3G>C

1 paper

NM_004733.4

p.M1I

c.3G>A

1 paper

NM_004733.4

p.K8E

c.22A>G

1 paper

NM_004733.4

p.R15W

c.43C>T

1 paper

NM_004733.4

p.R15R

c.45G>C

2 papers

NM_004733.4

p.N18I

c.53A>T

1 paper

NM_004733.4

p.D24A

c.71A>C

1 paper

NM_004733.4

p.M25L

c.73A>C

1 paper

NM_004733.4

p.L30Q

c.89T>A

2 papers

NM_004733.4

p.P31P

c.93G>A

1 paper

NM_004733.4

p.G34G

c.102T>C