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.E320Q

c.958G>C

Surrounding Variants

1 paper

NM_015162.5

p.S307R

c.921C>G

1 paper

NM_015162.5

p.S307R

c.921C>A

1 paper

NM_015162.5

p.S307R

c.919A>C

1 paper

NM_015162.5

p.A346fs

c.1036_1037fs

1 paper

NM_015162.5

p.A346delFs

c.1036delC

1 paper

NM_015162.5

p.G291S

c.871G>A

2 papers

NM_015162.5

p.G284S

c.850G>A

1 paper

NM_015162.5

p.T282_S283delins

c.846_849delinsACAA

1 paper

NM_015162.5

p.S283F

c.848C>T

1 paper

NM_015162.5

p.V280I

c.838G>A

1 paper

NM_015162.5

p.E261G

c.782A>G

1 paper

NM_015162.5

p.M253L

c.757A>T