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.Q76_V77Splc

c.229-664A>G

Surrounding Variants

1 paper

NM_001318734.2

p.I78fs

c.232_233fs

1 paper

NM_001318734.2

p.V99L

c.295G>C

1 paper

NM_001318734.2

p.V99L

c.295G>T

1 paper

NM_001318734.2

p.R100L

c.299G>T

1 paper

NM_001318734.2

p.E111*

c.331G>T

1 paper

NM_001318734.2

p.Q125K

c.373C>A

1 paper

NM_001318734.2

p.A126D

c.377C>A

1 paper

NM_001318734.2

p.E148K

c.442G>A

1 paper

NM_001318734.2

p.P169P

c.507C>A

1 paper

NM_001318734.2

p.Q174K

c.520C>A

1 paper

NM_001318734.2

p.L198L

c.594C>T

1 paper

NM_001318734.2

p.L201P

c.602T>C