Varaico: Literature-Extracted Genetic Variants

KIF1A

549 papers

RefSeq Summary

The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locu...

Pfam Domains

Kinesinaa 11–354UCSCKinesin motor domain

Kinesin_assocaa 358–515UCSCKinesin-associated

FHAaa 516–587UCSCFHA domain

KIF1Baa 805–852UCSCKinesin protein 1B

DUF3694aa 1149–1296UCSCKinesin protein

Gene Aliases

HGNC Name

kinesin family member 1A

HGNC Previous Symbols

ATSV; C2orf20; SPG30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001244008.2

p.D156V

c.467A>T

Surrounding Variants

2 papers

NM_001244008.2

p.L157H

c.470T>A

1 paper

NM_001244008.2

p.R155P

c.464G>C

4 papers

NM_001244008.2

p.R155C

c.463C>T

1 paper

NM_001244008.2

p.V154insFs

c.460dupG

3 papers

NM_001244008.2

p.V154F

c.460G>T

1 paper

NM_001244008.2

p.R153R

c.459C>T

1 paper

NM_001244008.2

p.R153_V154insFs

c.459_460insG

1 paper

NM_001244008.2

p.N159Y

c.475A>T

1 paper

NM_001244008.2

p.R153H

c.458G>A

2 papers

NM_001244008.2

p.R153C

c.457C>T

1 paper

NM_001244008.2

p.E152insFs

c.454_455insA

4 papers

NM_001244008.2

p.C151Y

c.452G>A