Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.R169L

KIF1C

152 papers

RefSeq Summary

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosom...

Pfam Domains

Kinesinaa 11–348UCSCKinesin motor domain
Kinesin_assocaa 352–522UCSCKinesin-associated
FHAaa 523–590UCSCFHA domain

Gene Aliases

HGNC Name

kinesin family member 1C

HGNC Previous Symbol

SAX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006612.6
p.R169L
c.506G>T
Surrounding Variants
8 papers
NM_006612.6
p.R169W
c.505C>T
1 paper
NM_006612.6
p.E170A
c.509A>C
1 paper
NM_006612.6
p.R167W
c.499C>T
7 papers
NM_006612.6
p.P176L
c.527C>T
1 paper
NM_006612.6
p.L158F
c.474G>C
1 paper
NM_006612.6
p.L158F
c.474G>T
5 papers
NM_006612.6
p.R155*
c.463C>T
2 papers
NM_006612.6
p.E152G
c.455A>G
1 paper
NM_006612.6
p.V186V
c.558G>T
1 paper
NM_006612.6
p.I149F
c.445A>T
1 paper
NM_006612.6
p.E148D
c.444G>C
1 paper
NM_006612.6
p.E148D
c.444G>T
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