Varaico: Literature-Extracted Genetic Variants

Gene:ACSM5
Variant:p.S246N

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.S246N
c.737G>A
Surrounding Variants
1 paper
NM_017888.3
p.S246R
c.736A>C
1 paper
NM_017888.3
p.S246R
c.738C>A
1 paper
NM_017888.3
p.S246R
c.738C>G
1 paper
NM_017888.3
p.S243T
c.727T>A
1 paper
NM_017888.3
p.P237A
c.709C>G
1 paper
NM_017888.3
p.S231R
c.693C>A
1 paper
NM_017888.3
p.S231R
c.693C>G
1 paper
NM_017888.3
p.S231R
c.691A>C
1 paper
NM_017888.3
p.T219T
c.657A>G
1 paper
NM_017888.3
p.R208Splc
c.623+6T>A
1 paper
NM_017888.3
p.E205K
c.613G>A
1 paper
NM_017888.3
p.S195C
c.583A>T
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