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

2 papers

NM_001244008.2

p.V220I

c.658G>A

Surrounding Variants

1 paper

NM_001244008.2

p.H218_A219Fs

c.654_655delinsGFs

6 papers

NM_001244008.2

p.N222H

c.664A>C

1 paper

NM_001244008.2

p.N222_I223insGAC

c.664_668ins9

6 papers

NM_001244008.2

p.S217F

c.650C>T

1 paper

NM_001244008.2

p.S217C

c.650C>G

3 papers

NM_001244008.2

p.S217Y

c.650C>A

19 papers

NM_001244008.2

p.R216P

c.647G>C

27 papers

NM_001244008.2

p.R216H

c.647G>A

21 papers

NM_001244008.2

p.R216C

c.646C>T

16 papers

NM_001244008.2

p.S215R

c.645T>G

16 papers

NM_001244008.2

p.S215R

c.645T>A

17 papers

NM_001244008.2

p.S215R

c.643A>C