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.K63N

c.189A>T

Surrounding Variants

2 papers

NM_004733.4

p.T56P

c.166A>C

1 paper

NM_004733.4

p.S73N

c.218G>A

1 paper

NM_004733.4

p.L53Q

c.158T>A

1 paper

NM_004733.4

p.L76W

c.227T>G

1 paper

NM_004733.4

p.D48N

c.142G>A

1 paper

NM_004733.4

p.G47A

c.140G>C

1 paper

NM_004733.4

p.G47R

c.139G>A

2 papers

NM_004733.4

p.E46K

c.136G>A

1 paper

NM_004733.4

p.R45P

c.134G>C

1 paper

NM_004733.4

p.G44V

c.131G>T

1 paper

NM_004733.4

p.L84I

c.250C>A

1 paper

NM_004733.4

p.L84H

c.251T>A