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

1–12 of 852 variants

45 papers

NM_001244008.2

p.T99M

c.296C>T

40 papers

NM_001244008.2

p.E253K

c.757G>A

40 papers

NM_001244008.2

p.P305L

c.914C>T

34 papers

NM_001244008.2

p.A255V

c.764C>T

34 papers

NM_001244008.2

p.R316W

c.946C>T

31 papers

NM_001244008.2

p.R307Q

c.920G>A

31 papers

NM_001244008.2

p.R350G

c.1048C>G

28 papers

NM_001244008.2

p.R254W

c.760C>T

27 papers

NM_001244008.2

p.R216H

c.647G>A

27 papers

NM_001244008.2

p.R254Q

c.761G>A

25 papers

NM_001244008.2

p.S69L

c.206C>T

25 papers

NM_001244008.2

p.R167C

c.499C>T