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

3 papers

NM_004733.4

p.Y366*

c.1098C>G

Surrounding Variants

2 papers

NM_004733.4

p.Y366*

c.1098C>A

1 paper

NM_004733.4

p.I363T

c.1088T>C

1 paper

NM_004733.4

p.L361_I362delFs

c.1082_1085del4

1 paper

NM_004733.4

p.P372A

c.1114C>G

1 paper

NM_004733.4

p.L361L

c.1081C>T

1 paper

NM_004733.4

p.P372P

c.1116A>C

2 papers

NM_004733.4

p.Y377*

c.1131C>G

2 papers

NM_004733.4

p.Y377*

c.1131C>A

1 paper

NM_004733.4

p.L345L

c.1033T>C

1 paper

NM_004733.4

p.P341L

c.1022C>T

1 paper

NM_004733.4

p.L335W

c.1004T>G

100 papers

NM_004733.4

p.E389A

c.1166A>C