Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.D232N

KIF5A

400 papers

RefSeq Summary

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Muta...

Pfam Domains

Kinesinaa 15–327UCSCKinesin motor domain

Gene Aliases

HGNC Name

kinesin family member 5A

HGNC Previous Symbol

SPG10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_004984.4
p.D232N
c.694G>A
Surrounding Variants
1 paper
NM_004984.4
p.D232E
c.696C>A
1 paper
NM_004984.4
p.D232E
c.696C>G
12 papers
NM_004984.4
p.V231L
c.691G>C
12 papers
NM_004984.4
p.V231L
c.691G>T
1 paper
NM_004984.4
p.L233Q
c.698T>A
1 paper
NM_004984.4
p.L233P
c.698T>C
2 papers
NM_004984.4
p.Y229*
c.687T>A
2 papers
NM_004984.4
p.Y229*
c.687T>G
14 papers
NM_004984.4
p.G235E
c.704G>A
1 paper
NM_004984.4
p.G235A
c.704G>C
1 paper
NM_004984.4
p.L228P
c.683T>C
1 paper
NM_004984.4
p.L228L
c.682C>T
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