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

34 papers

NM_004733.4

p.S113R

c.339T>G

Surrounding Variants

33 papers

NM_004733.4

p.S113R

c.339T>A

33 papers

NM_004733.4

p.S113R

c.337A>C

1 paper

NM_004733.4

p.F112V

c.334T>G

1 paper

NM_004733.4

p.V115A

c.344T>C

6 papers

NM_004733.4

p.A110P

c.328G>C

1 paper

NM_004733.4

p.P118L

c.353C>T

1 paper

NM_004733.4

p.P118R

c.353C>G

1 paper

NM_004733.4

p.D108Y

c.322G>T

3 papers

NM_004733.4

p.L124F

c.370C>T

1 paper

NM_004733.4

p.Q100*

c.298C>T

1 paper

NM_004733.4

p.V134F

c.400G>T

1 paper

NM_004733.4

p.G93V

c.278G>T