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.V505L

c.1513G>C

Surrounding Variants

1 paper

NM_015162.5

p.V505L

c.1513G>T

1 paper

NM_015162.5

p.Q510L

c.1529A>T

1 paper

NM_015162.5

p.E513Q

c.1537G>C

1 paper

NM_015162.5

p.S495Splc

c.1485-3C>T

1 paper

NM_015162.5

p.A539V

c.1616C>T

1 paper

NM_015162.5

p.T548M

c.1643C>T

1 paper

NM_015162.5

p.M485V

c.1453A>G

1 paper

NM_015162.5

p.S480L

c.1439C>T

1 paper

NM_015162.5

p.E478*

c.1432G>T

1 paper

NM_015162.5

p.A472A

c.1416G>A

1 paper

NM_015162.5

p.A472V

c.1415C>T

1 paper

NM_015162.5

p.G465S

c.1393G>A