Varaico: Literature-Extracted Genetic Variants

Gene:ACSM5
Variant:p.R458H

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.R458H
c.1373G>A
Surrounding Variants
1 paper
NM_017888.3
p.D455E
c.1365C>A
2 papers
NM_017888.3
p.D455E
c.1365C>G
1 paper
NM_017888.3
p.D462H
c.1384G>C
1 paper
NM_017888.3
p.F465I
c.1393T>A
1 paper
NM_017888.3
p.D472D
c.1416C>T
3 papers
NM_017888.3
p.R481Q
c.1442G>A
1 paper
NM_017888.3
p.A492G
c.1475C>G
1 paper
NM_017888.3
p.P506Q
c.1517C>A
1 paper
NM_017888.3
p.A516E
c.1547C>A
1 paper
NM_017888.3
p.L532R
c.1595T>G
1 paper
NM_017888.3
p.R534Q
c.1601G>A
1 paper
NM_017888.3
p.K552_V553Splc
c.1656+6T>C
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