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

3 papers

NM_001244008.2

p.G199E

c.596G>A

Surrounding Variants

17 papers

NM_001244008.2

p.G199R

c.595G>C

16 papers

NM_001244008.2

p.G199R

c.595G>A

1 paper

NM_001244008.2

p.N200S

c.599A>G

1 paper

NM_001244008.2

p.N200K

c.600C>G

1 paper

NM_001244008.2

p.N200K

c.600C>A

1 paper

NM_001244008.2

p.D197N

c.589G>A

21 papers

NM_001244008.2

p.A202P

c.604G>C

3 papers

NM_001244008.2

p.A202V

c.605C>T

1 paper

NM_001244008.2

p.R203G

c.607A>G

1 paper

NM_001244008.2

p.D194N

c.580G>A

1 paper

NM_001244008.2

p.Q193H

c.579G>T

2 papers

NM_001244008.2

p.I192S

c.575T>G