Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2B
Variant:p.E58Q

ACSM2B

74 papers

Pfam Domains

AMP-bindingaa 58–427UCSCAMP-binding enzyme
AMP-binding_Caa 477–557UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 2B

HGNC Previous Symbol

ACSM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105069.2
p.E58Q
c.172G>C
Surrounding Variants
1 paper
NM_001105069.2
p.F46L
c.138T>G
1 paper
NM_001105069.2
p.F46L
c.138T>A
1 paper
NM_001105069.2
p.F46L
c.136T>C
1 paper
NM_001105069.2
p.S32A
c.94T>G
1 paper
NM_001105069.2
p.Q29K
c.85C>A
1 paper
NM_001105069.2
p.L23F
c.67C>T
1 paper
NM_001105069.2
p.T12I
c.35C>T
1 paper
NM_001105069.2
p.C11F
c.32G>T
1 paper
NM_001105069.2
p.G9E
c.26G>A
1 paper
NM_001105069.2
p.R5Q
c.14G>A
1 paper
NM_001105069.2
p.R5*
c.13C>T
1 paper
NM_001105069.2
p.L64P
c.191T>C
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