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.K266_E267Splc

c.798+1G>T

Surrounding Variants

1 paper

NM_001244008.2

p.K266_E267Splc

c.798+1G>A

1 paper

NM_001244008.2

p.K266N

c.798G>T

1 paper

NM_001244008.2

p.K266N

c.798G>C

1 paper

NM_001244008.2

p.R264C

c.790C>T

1 paper

NM_001244008.2

p.G262D

c.785G>A

1 paper

NM_001244008.2

p.K261*

c.781A>T

1 paper

NM_001244008.2

p.A260T

c.778G>A

1 paper

NM_001244008.2

p.G259R

c.775G>C

1 paper

NM_001244008.2

p.G259R

c.775G>A

22 papers

NM_001244008.2

p.T258M

c.773C>T

1 paper

NM_001244008.2

p.D256G

c.767A>G

34 papers

NM_001244008.2

p.A255V

c.764C>T