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.D180N

c.538G>A

Surrounding Variants

3 papers

NM_001244008.2

p.E179G

c.536A>G

1 paper

NM_001244008.2

p.L181F

c.541C>T

1 paper

NM_001244008.2

p.V178delFs

c.533delA

1 paper

NM_001244008.2

p.V178E

c.533T>A

1 paper

NM_001244008.2

p.V178L

c.532G>T

1 paper

NM_001244008.2

p.V178L

c.532G>C

3 papers

NM_001244008.2

p.V178M

c.532G>A

2 papers

NM_001244008.2

p.P176L

c.527C>T

1 paper

NM_001244008.2

p.G175G

c.525G>T

1 paper

NM_001244008.2

p.G175R

c.523G>C

4 papers

NM_001244008.2

p.L174P

c.521T>C

4 papers

NM_001244008.2

p.V186F

c.556G>T