Varaico: Literature-Extracted Genetic Variants

Gene:ACOT13
Variant:p.M42I

ACOT13

23 papers

RefSeq Summary

This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms...

Pfam Domains

4HBTaa 52–129UCSCThioesterase superfamily

Gene Aliases

HGNC Name

acyl-CoA thioesterase 13

HGNC Previous Symbol

THEM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018473.4
p.M42I
c.126G>C
Surrounding Variants
1 paper
NM_018473.4
p.M42I
c.126G>A
1 paper
NM_018473.4
p.M42I
c.126G>T
1 paper
NM_018473.4
p.E45D
c.135A>C
1 paper
NM_018473.4
p.E45D
c.135A>T
1 paper
NM_018473.4
p.G36R
c.106G>A
1 paper
NM_018473.4
p.G36R
c.106G>C
1 paper
NM_018473.4
p.A34A
c.102T>C
1 paper
NM_018473.4
p.G53V
c.158G>T
1 paper
NM_018473.4
p.T60P
c.178A>C
1 paper
NM_018473.4
p.T62T
c.186G>A
1 paper
NM_018473.4
p.D65A
c.194A>C
1 paper
NM_018473.4
p.T75P
c.223A>C
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