Varaico: Literature-Extracted Genetic Variants

Gene:ACSM3
Variant:p.L100P

ACSM3

90 papers

Pfam Domains

AMP-bindingaa 71–429UCSCAMP-binding enzyme
AMP-binding_Caa 492–572UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 3

HGNC Previous Symbol

SAH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_005622.4
p.L100P
c.299T>C
Surrounding Variants
1 paper
NM_005622.4
p.E98D
c.294G>C
1 paper
NM_005622.4
p.E98D
c.294G>T
1 paper
NM_005622.4
p.W95R
c.283T>C
1 paper
NM_005622.4
p.N109K
c.327T>A
1 paper
NM_005622.4
p.N109K
c.327T>G
1 paper
NM_005622.4
p.G90_E92delFs
c.268_275del8
1 paper
NM_005622.4
p.Q118Q
c.354A>G
1 paper
NM_005622.4
p.P78L
c.233C>T
1 paper
NM_005622.4
p.R122Q
c.365G>A
1 paper
NM_005622.4
p.K77E
c.229A>G
1 paper
NM_005622.4
p.A136E
c.407C>A
1 paper
NM_005622.4
p.G144R
c.430G>A
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