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.E49*

c.145G>T

Surrounding Variants

3 papers

NM_001318734.2

p.E49K

c.145G>A

1 paper

NM_001318734.2

p.A47A

c.141C>T

1 paper

NM_001318734.2

p.P45_E46ins11

c.135_136ins33

1 paper

NM_001318734.2

p.E56G

c.167A>G

1 paper

NM_001318734.2

p.R63C

c.187C>T

1 paper

NM_001318734.2

p.E74*

c.220G>T

1 paper

NM_001318734.2

p.E74fs

c.220_221fs

1 paper

NM_001318734.2

p.M1T

c.2T>C

1 paper

NM_001318734.2

p.Q76_V77Splc

c.229-664A>G

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