Varaico: Literature-Extracted Genetic Variants

ACSBG1

96 papers

RefSeq Summary

The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided b...

Pfam Domains

AMP-bindingaa 109–530UCSCAMP-binding enzyme

AMP-binding_C_3aa 567–653UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase bubblegum family member 1

HGNC Alias Symbols

BGM; FLJ30320; MGC14352; BG1; KIAA0631; hsBG

Papers

RefSeq ID

Protein change

DNA change

1–12 of 97 variants

3 papers

NM_015162.5

p.M633V

c.1897A>G

2 papers

NM_015162.5

p.G284S

c.850G>A

2 papers

NM_015162.5

p.R385C

c.1153C>T

2 papers

NM_015162.5

p.R437H

c.1310G>A

2 papers

NM_015162.5

p.T629A

c.1885A>G

1 paper

NM_015162.5

p.P2fs

c.4_5fs

1 paper

NM_015162.5

p.G10D

c.29G>A

1 paper

NM_015162.5

p.G10G

c.30C>A

1 paper

NM_015162.5

p.P12R

c.35C>G

1 paper

NM_015162.5

p.H13H

c.39C>T

1 paper

NM_015162.5

p.P16S

c.46C>T

1 paper

NM_015162.5

p.E23D

c.69G>T