Varaico: Literature-Extracted Genetic Variants

Gene:ACSM5
Variant:p.P174A

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.P174A
c.520C>G
Surrounding Variants
1 paper
NM_017888.3
p.P174L
c.521C>T
1 paper
NM_017888.3
p.A173V
c.518C>T
1 paper
NM_017888.3
p.A178V
c.533C>T
1 paper
NM_017888.3
p.S180C
c.538A>T
1 paper
NM_017888.3
p.S185Y
c.554C>A
1 paper
NM_017888.3
p.K155E
c.463A>G
1 paper
NM_017888.3
p.S195C
c.583A>T
1 paper
NM_017888.3
p.E151_K152ins4
c.451_455ins12
1 paper
NM_017888.3
p.E205K
c.613G>A
1 paper
NM_017888.3
p.R208Splc
c.623+6T>A
1 paper
NM_017888.3
p.P126L
c.377C>T
3 papers
NM_017888.3
p.R124W
c.370C>T
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