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

Selected Variant

1 paper

NM_015162.5

p.K614T

c.1841A>C

Surrounding Variants

1 paper

NM_015162.5

p.L599P

c.1796T>C

1 paper

NM_015162.5

p.I571M

c.1713C>G

1 paper

NM_015162.5

p.I571V

c.1711A>G

1 paper

NM_015162.5

p.E568Splc

c.1703-2A>G

2 papers

NM_015162.5

p.T629A

c.1885A>G

3 papers

NM_015162.5

p.M633V

c.1897A>G

1 paper

NM_015162.5

p.T645fs

c.1933_1934fs

1 paper

NM_015162.5

p.E663Q

c.1987G>C

1 paper

NM_015162.5

p.R666W

c.1996C>T

1 paper

NM_015162.5

p.A672T

c.2014G>A

1 paper

NM_015162.5

p.A673V

c.2018C>T

1 paper

NM_015162.5

p.A683_I684insG

c.2047_2051ins3