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

1–12 of 142 variants

100 papers

NM_004733.4

p.E389A

c.1166A>C

34 papers

NM_004733.4

p.S113R

c.339T>G

33 papers

NM_004733.4

p.S113R

c.337A>C

33 papers

NM_004733.4

p.S113R

c.339T>A

7 papers

NM_004733.4

p.D171G

c.512A>G

6 papers

NM_004733.4

p.A110P

c.328G>C

4 papers

NM_004733.4

p.A191A

c.573C>T

4 papers

NM_004733.4

p.L205_S206insFs

c.615_616insT

4 papers

NM_004733.4

p.I412I

c.1236C>T

3 papers

NM_004733.4

p.L124F

c.370C>T

3 papers

NM_004733.4

p.K299N

c.897G>T

3 papers

NM_004733.4

p.K299N

c.897G>C