Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.D197E

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.D197E
c.591C>A
Surrounding Variants
1 paper
NM_006612.6
p.D197E
c.591C>G
1 paper
NM_006612.6
p.G199R
c.595G>A
1 paper
NM_006612.6
p.G199R
c.595G>C
1 paper
NM_006612.6
p.L195L
c.585C>T
1 paper
NM_006612.6
p.A202P
c.604G>C
1 paper
NM_006612.6
p.R203W
c.607C>T
3 papers
NM_006612.6
p.R203Q
c.608G>A
2 papers
NM_006612.6
p.R203Splc
c.608+1G>A
1 paper
NM_006612.6
p.R203Splc
c.608+5G>A
1 paper
NM_006612.6
p.V186V
c.558G>T
7 papers
NM_006612.6
p.P176L
c.527C>T
1 paper
NM_006612.6
p.E170A
c.509A>C
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