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

1 paper

NM_001318734.2

p.R509Q

c.1526G>A

Surrounding Variants

1 paper

NM_001318734.2

p.R502Q

c.1505G>A

1 paper

NM_001318734.2

p.L523I

c.1567C>A

1 paper

NM_001318734.2

p.Q488delFs

c.1464delG

1 paper

NM_001318734.2

p.Q488fs

c.1462_1463fs

2 papers

NM_001318734.2

p.N533D

c.1597A>G

1 paper

NM_001318734.2

p.Q481_G482Splc

c.1444-1G>C

1 paper

NM_001318734.2

p.Q481_G482Splc

c.1443+20G>A

1 paper

NM_001318734.2

p.Q481_G482Splc

c.1443+2T>G

1 paper

NM_001318734.2

p.R550Q

c.1649G>A

1 paper

NM_001318734.2

p.R555H

c.1664G>A

1 paper

NM_001318734.2

p.R460W

c.1378C>T

1 paper

NM_001318734.2

p.Q565fs

c.1693_1694fs