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.D499E

c.1497C>G

Surrounding Variants

1 paper

NM_001394837.1

p.G497V

c.1490G>T

1 paper

NM_001394837.1

p.A507E

c.1520C>A

1 paper

NM_001394837.1

p.G538R

c.1612G>A

1 paper

NM_001394837.1

p.G538R

c.1612G>C

1 paper

NM_001394837.1

p.E488A

c.1463A>C

1 paper

NM_001394837.1

p.E484A

c.1451A>C

1 paper

NM_001394837.1

p.N469S

c.1406A>G

1 paper

NM_001394837.1

p.T466A

c.1396A>G

1 paper

NM_001394837.1

p.P461Q

c.1382C>A

1 paper

NM_001394837.1

p.W452fs

c.1354_1355fs

1 paper

NM_001394837.1

p.W452fs

c.1354_1355fs

2 papers

NM_001394837.1

p.G450Fs

c.1350delinsCGFs