Varaico: Literature-Extracted Genetic Variants

KLC2

69 papers

RefSeq Summary

The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegi...

Pfam Domains

TPR_12aa 197–272UCSCTetratricopeptide repeat

TPR_12aa 264–314UCSCTetratricopeptide repeat

TPR_12aa 280–356UCSCTetratricopeptide repeat

TPR_12aa 322–397UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

kinesin light chain 2

HGNC Alias Symbol

FLJ12387

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001318734.2

p.S328N

c.983G>A

Surrounding Variants

1 paper

NM_001318734.2

p.G359R

c.1075G>A

1 paper

NM_001318734.2

p.G359R

c.1075G>C

1 paper

NM_001318734.2

p.D361N

c.1081G>A

1 paper

NM_001318734.2

p.K369K

c.1107G>A

1 paper

NM_001318734.2

p.R312W

c.934C>T

1 paper

NM_001318734.2

p.A308V

c.923C>T

1 paper

NM_001318734.2

p.Y298*

c.894C>A

1 paper

NM_001318734.2

p.Y298*

c.894C>G

1 paper

NM_001318734.2

p.G293D

c.878G>A

1 paper

NM_001318734.2

p.L288fs

c.862_863fs

1 paper

NM_001318734.2

p.A283V

c.848C>T

1 paper

NM_001318734.2

p.G380V

c.1139G>T