Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.E754D

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.E754D
c.2262G>C
Surrounding Variants
1 paper
NM_006612.6
p.E754D
c.2262G>T
2 papers
NM_006612.6
p.R765C
c.2293C>T
2 papers
NM_006612.6
p.G767R
c.2299G>A
2 papers
NM_006612.6
p.G767R
c.2299G>C
1 paper
NM_006612.6
p.A776S
c.2326G>T
7 papers
NM_006612.6
p.R731*
c.2191C>T
1 paper
NM_006612.6
p.I728delFs
c.2184delC
1 paper
NM_006612.6
p.R723H
c.2168G>A
1 paper
NM_006612.6
p.A795T
c.2383G>A
1 paper
NM_006612.6
p.R801Q
c.2402G>A
6 papers
NM_006612.6
p.T702I
c.2105C>T
4 papers
NM_006612.6
p.P700L
c.2099C>T
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