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

100 papers

NM_004733.4

p.E389A

c.1166A>C

Surrounding Variants

1 paper

NM_004733.4

p.V400A

c.1199T>C

1 paper

NM_004733.4

p.G405R

c.1213G>A

1 paper

NM_004733.4

p.G405_P407delFs

c.1215_1219del5

4 papers

NM_004733.4

p.I412I

c.1236C>T

1 paper

NM_004733.4

p.V414F

c.1240G>T

1 paper

NM_004733.4

p.Q422_V423Splc

c.1266+1G>T

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.P372P

c.1116A>C

1 paper

NM_004733.4

p.P372A

c.1114C>G

3 papers

NM_004733.4

p.Y366*

c.1098C>G

2 papers

NM_004733.4

p.Y366*

c.1098C>A