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.S214C

c.640A>T

Surrounding Variants

3 papers

NM_001244008.2

p.S214R

c.640A>C

4 papers

NM_001244008.2

p.S214N

c.641G>A

1 paper

NM_001244008.2

p.T213I

c.638C>T

3 papers

NM_001244008.2

p.S214R

c.642C>G

3 papers

NM_001244008.2

p.S214R

c.642C>A

17 papers

NM_001244008.2

p.S215R

c.643A>C

16 papers

NM_001244008.2

p.S215R

c.645T>G

16 papers

NM_001244008.2

p.S215R

c.645T>A

1 paper

NM_001244008.2

p.E212K

c.634G>A

21 papers

NM_001244008.2

p.R216C

c.646C>T

19 papers

NM_001244008.2

p.R216P

c.647G>C

27 papers

NM_001244008.2

p.R216H

c.647G>A