Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.R293Q

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.R293Q
c.878G>A
Surrounding Variants
1 paper
NM_006612.6
p.R293*
c.877C>T
1 paper
NM_006612.6
p.S295L
c.884C>T
3 papers
NM_006612.6
p.Q289P
c.866A>C
2 papers
NM_006612.6
p.Y300F
c.899A>T
7 papers
NM_006612.6
p.R301G
c.901A>G
1 paper
NM_006612.6
p.R301K
c.902G>A
1 paper
NM_006612.6
p.W307*
c.920G>A
1 paper
NM_006612.6
p.W307L
c.920G>T
1 paper
NM_006612.6
p.W307*
c.921G>A
2 papers
NM_006612.6
p.L309_K310insFs
c.927_928ins5
1 paper
NM_006612.6
p.N312fs
c.934_935fs
2 papers
NM_006612.6
p.G314Splc
c.940+1G>A
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