Varaico: Literature-Extracted Genetic Variants

Gene:ACSM5
Variant:p.M385I

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.M385I
c.1155G>C
Surrounding Variants
1 paper
NM_017888.3
p.M385I
c.1155G>A
1 paper
NM_017888.3
p.M385I
c.1155G>T
3 papers
NM_017888.3
p.K386T
c.1157A>C
1 paper
NM_017888.3
p.S391C
c.1172C>G
3 papers
NM_017888.3
p.D400N
c.1198G>A
1 paper
NM_017888.3
p.N409N
c.1227C>T
1 paper
NM_017888.3
p.A420V
c.1259C>T
3 papers
NM_017888.3
p.P425T
c.1273C>A
1 paper
NM_017888.3
p.L436_D437Splc
c.1308+10G>A
1 paper
NM_017888.3
p.T362T
c.1086T>C
1 paper
NM_017888.3
p.T362S
c.1085C>G
1 paper
NM_017888.3
p.T362S
c.1084A>T
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