Varaico: Literature-Extracted Genetic Variants

Gene:KIF24
Variant:p.N522S

KIF24

86 papers

RefSeq Summary

This gene encodes a member of the kinesin superfamily of microtubule-based motor proteins which are involved in the intracellular transport of membranous organelles, protein complexes, and mRNAs. They...

Pfam Domains

SAM_1aa 2–62UCSCSAM domain (Sterile alpha motif)
Kinesinaa 229–546UCSCKinesin motor domain

Gene Aliases

HGNC Name

kinesin family member 24

HGNC Previous Symbol

C9orf48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_194313.4
p.N522S
c.1565A>G
Surrounding Variants
2 papers
NM_194313.4
p.G513S
c.1537G>A
1 paper
NM_194313.4
p.R559L
c.1676G>T
1 paper
NM_194313.4
p.S566F
c.1697C>T
1 paper
NM_194313.4
p.V588F
c.1762G>T
1 paper
NM_194313.4
p.T604M
c.1811C>T
1 paper
NM_194313.4
p.P616L
c.1847C>T
1 paper
NM_194313.4
p.G650E
c.1949G>A
1 paper
NM_194313.4
p.R653C
c.1957C>T
1 paper
NM_194313.4
p.R653H
c.1958G>A
1 paper
NM_194313.4
p.K659fs
c.1975_1976fs
1 paper
NM_194313.4
p.K661fs
c.1981_1982fs
1 paper
NM_194313.4
p.K661insFs
c.1982dupA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."