Varaico: Literature-Extracted Genetic Variants

OXSM

45 papers

RefSeq Summary

This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[pro...

Pfam Domains

ketoacyl-syntaa 41–291UCSCBeta-ketoacyl synthase, N-terminal domain

Ketoacyl-synt_Caa 299–414UCSCBeta-ketoacyl synthase, C-terminal domain

Gene Aliases

HGNC Name

3-oxoacyl-ACP synthase, mitochondrial

HGNC Alias Symbols

KS; FLJ20604; FASN2D; CEM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017897.3

p.D64H

c.190G>C

Surrounding Variants

1 paper

NM_017897.3

p.R65C

c.193C>T

1 paper

NM_017897.3

p.P54H

c.161C>A

1 paper

NM_017897.3

p.Y81H

c.241T>C

1 paper

NM_017897.3

p.V88F

c.262G>T

1 paper

NM_017897.3

p.A89T

c.265G>A

2 papers

NM_017897.3

p.F106I

c.316T>A

1 paper

NM_017897.3

p.D132N

c.394G>A

1 paper

NM_017897.3

p.E140D

c.420A>T

1 paper

NM_017897.3

p.A149G

c.446C>G

1 paper

NM_017897.3

p.A149V

c.446C>T

1 paper

NM_017897.3

p.K174*

c.520A>T

1 paper

NM_017897.3

p.A188V

c.563C>T