Varaico: Literature-Extracted Genetic Variants

KLC1

104 papers

RefSeq Summary

Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the m...

Pfam Domains

TPR_12aa 211–287UCSCTetratricopeptide repeat

TPR_12aa 276–319UCSCTetratricopeptide repeat

TPR_12aa 295–371UCSCTetratricopeptide repeat

TPR_1aa 297–330UCSCTetratricopeptide repeat

TPR_12aa 337–412UCSCTetratricopeptide repeat

TPR_10aa 463–502UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

kinesin light chain 1

HGNC Previous Symbol

KNS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001394837.1

p.T288A

c.862A>G

Surrounding Variants

1 paper

NM_001394837.1

p.L278P

c.833T>C

1 paper

NM_001394837.1

p.K312K

c.936G>A

1 paper

NM_001394837.1

p.K340E

c.1018A>G

4 papers

NM_001394837.1

p.N343S

c.1028A>G

1 paper

NM_001394837.1

p.K382E

c.1144A>G

1 paper

NM_001394837.1

p.N386S

c.1157A>G

1 paper

NM_001394837.1

p.I407S

c.1220T>G

2 papers

NM_001394837.1

p.G450Fs

c.1350delinsCGFs

1 paper

NM_001394837.1

p.W452fs

c.1354_1355fs

1 paper

NM_001394837.1

p.W452fs

c.1354_1355fs

1 paper

NM_001394837.1

p.R266S

c.798G>C

1 paper

NM_001394837.1

p.R266S

c.798G>T