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.Y149*

c.447T>A

Surrounding Variants

1 paper

NM_004733.4

p.I150_L151delFs

c.448_451del4

1 paper

NM_004733.4

p.L153delFs

c.458delA

2 papers

NM_004733.4

p.L144F

c.430C>T

1 paper

NM_004733.4

p.V134F

c.400G>T

1 paper

NM_004733.4

p.L166F

c.496C>T

7 papers

NM_004733.4

p.D171G

c.512A>G

2 papers

NM_004733.4

p.P174L

c.521C>T

3 papers

NM_004733.4

p.L124F

c.370C>T

1 paper

NM_004733.4

p.P118L

c.353C>T

1 paper

NM_004733.4

p.P118R

c.353C>G

2 papers

NM_004733.4

p.V181delFs

c.542_543delCA

1 paper

NM_004733.4

p.V115A

c.344T>C