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.C415S

c.1244G>C

Surrounding Variants

1 paper

NM_017897.3

p.C415S

c.1243T>A

2 papers

NM_017897.3

p.E419Q

c.1255G>C

1 paper

NM_017897.3

p.P409P

c.1227T>C

1 paper

NM_017897.3

p.P426L

c.1277C>T

1 paper

NM_017897.3

p.S378*

c.1133C>A

1 paper

NM_017897.3

p.S378*

c.1133C>G

1 paper

NM_017897.3

p.V376I

c.1126G>A

1 paper

NM_017897.3

p.C455R

c.1363T>C

1 paper

NM_017897.3

p.H370Q

c.1110T>A

1 paper

NM_017897.3

p.H370H

c.1110T>C

1 paper

NM_017897.3

p.H370Q

c.1110T>G

1 paper

NM_017897.3

p.H370N

c.1108C>A