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

2 papers

NM_015162.5

p.R385C

c.1153C>T

Surrounding Variants

1 paper

NM_015162.5

p.E384K

c.1150G>A

1 paper

NM_015162.5

p.S371L

c.1112C>T

1 paper

NM_015162.5

p.L402L

c.1206G>A

1 paper

NM_015162.5

p.S406S

c.1218G>A

1 paper

NM_015162.5

p.L413R

c.1238T>G

1 paper

NM_015162.5

p.G417S

c.1249G>A

2 papers

NM_015162.5

p.R437H

c.1310G>A

1 paper

NM_015162.5

p.A346delFs

c.1036delC

1 paper

NM_015162.5

p.A346fs

c.1036_1037fs

1 paper

NM_015162.5

p.G465S

c.1393G>A

1 paper

NM_015162.5

p.E320Q

c.958G>C

1 paper

NM_015162.5

p.A472V

c.1415C>T