Varaico: Literature-Extracted Genetic Variants

Gene:ACSM5
Variant:p.V304F

ACSM5

74 papers

Pfam Domains

AMP-bindingaa 66–435UCSCAMP-binding enzyme
AMP-binding_Caa 486–566UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 5

HGNC Alias Symbol

FLJ20581

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017888.3
p.V304F
c.910G>T
Surrounding Variants
1 paper
NM_017888.3
p.I305T
c.914T>C
1 paper
NM_017888.3
p.I305I
c.915C>T
1 paper
NM_017888.3
p.W286*
c.858G>A
1 paper
NM_017888.3
p.W286*
c.857G>A
2 papers
NM_017888.3
p.L282V
c.844C>G
1 paper
NM_017888.3
p.W280R
c.838T>A
1 paper
NM_017888.3
p.W280R
c.838T>C
1 paper
NM_017888.3
p.T270M
c.809C>T
2 papers
NM_017888.3
p.E263K
c.787G>A
1 paper
NM_017888.3
p.A260V
c.779C>T
1 paper
NM_017888.3
p.S246R
c.738C>A
1 paper
NM_017888.3
p.S246R
c.738C>G
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