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.H171P

c.512A>C

Surrounding Variants

1 paper

NM_001244008.2

p.H171D

c.511C>G

1 paper

NM_001244008.2

p.R169insFs

c.506dupG

6 papers

NM_001244008.2

p.L173P

c.518T>C

9 papers

NM_001244008.2

p.R169T

c.506G>C

2 papers

NM_001244008.2

p.R169K

c.506G>A

1 paper

NM_001244008.2

p.L173L

c.519G>A

4 papers

NM_001244008.2

p.L174P

c.521T>C

1 paper

NM_001244008.2

p.V168M

c.502G>A

1 paper

NM_001244008.2

p.G175R

c.523G>C

1 paper

NM_001244008.2

p.R167R

c.501C>T

9 papers

NM_001244008.2

p.R167H

c.500G>A

1 paper

NM_001244008.2

p.G175G

c.525G>T