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.A255D

c.764C>A

Surrounding Variants

34 papers

NM_001244008.2

p.A255V

c.764C>T

1 paper

NM_001244008.2

p.A255T

c.763G>A

4 papers

NM_001244008.2

p.R254P

c.761G>C

27 papers

NM_001244008.2

p.R254Q

c.761G>A

1 paper

NM_001244008.2

p.D256G

c.767A>G

28 papers

NM_001244008.2

p.R254W

c.760C>T

40 papers

NM_001244008.2

p.E253K

c.757G>A

5 papers

NM_001244008.2

p.S252R

c.756C>G

5 papers

NM_001244008.2

p.S252R

c.756C>A

22 papers

NM_001244008.2

p.T258M

c.773C>T

5 papers

NM_001244008.2

p.S252R

c.754A>C

1 paper

NM_001244008.2

p.G259R

c.775G>C