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.R246fs

c.736_737fs

Surrounding Variants

1 paper

NM_004733.4

p.L245insFs

c.735dupG

1 paper

NM_004733.4

p.Y244_L245insFs

c.732_733insCA

1 paper

NM_004733.4

p.Q248R

c.743A>G

1 paper

NM_004733.4

p.K243R

c.728A>G

1 paper

NM_004733.4

p.C241fs

c.721_722fs

1 paper

NM_004733.4

p.C241delFs

c.721delA

1 paper

NM_004733.4

p.D239_F240insFs

c.717_718insAC

1 paper

NM_004733.4

p.L233L

c.699G>A

1 paper

NM_004733.4

p.S258L

c.773C>T

1 paper

NM_004733.4

p.D259Splc

c.775+1G>T

1 paper

NM_004733.4

p.D259Splc

c.775+3A>T

1 paper

NM_004733.4

p.N229ins4

c.686_687ins12