Varaico: Literature-Extracted Genetic Variants

Gene:KLC1
Variant:p.L92V

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.L92V
c.274T>G
Surrounding Variants
1 paper
NM_001394837.1
p.V99A
c.296T>C
1 paper
NM_001394837.1
p.L106V
c.316C>G
1 paper
NM_001394837.1
p.E123D
c.369A>T
1 paper
NM_001394837.1
p.N126D
c.376A>G
4 papers
NM_001394837.1
p.Q136*
c.406C>T
1 paper
NM_001394837.1
p.L154fs
c.460_461fs
1 paper
NM_001394837.1
p.L154delFs
c.461delT
1 paper
NM_001394837.1
p.E85_A86del1
c.255_257delGGC
1 paper
NM_001394837.1
p.S84I
c.251G>T
1 paper
NM_001394837.1
p.G82R
c.244G>C
1 paper
NM_001394837.1
p.M71V
c.211A>G
1 paper
NM_001394837.1
p.S62R
c.186T>A
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