Varaico: Literature-Extracted Genetic Variants

Gene:ACSM5

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
1–12 of 93 variants
4 papers
NM_017888.3
p.H23R
c.68A>G
4 papers
NM_017888.3
p.K25Q
c.73A>C
4 papers
NM_017888.3
p.P352R
c.1055C>G
3 papers
NM_017888.3
p.R124W
c.370C>T
3 papers
NM_017888.3
p.K386T
c.1157A>C
3 papers
NM_017888.3
p.D400N
c.1198G>A
3 papers
NM_017888.3
p.P425T
c.1273C>A
3 papers
NM_017888.3
p.R481Q
c.1442G>A
2 papers
NM_017888.3
p.E263K
c.787G>A
2 papers
NM_017888.3
p.L282V
c.844C>G
2 papers
NM_017888.3
p.K311T
c.932A>C
2 papers
NM_017888.3
p.R325Q
c.974G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."