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.T238T

c.714G>A

Surrounding Variants

6 papers

NM_001244008.2

p.E239K

c.715G>A

1 paper

NM_001244008.2

p.T238P

c.712A>C

1 paper

NM_001244008.2

p.E239_K240insFs

c.717_718insAC

1 paper

NM_001244008.2

p.K240del1

c.718_719delCTT

4 papers

NM_001244008.2

p.E233D

c.699G>T

4 papers

NM_001244008.2

p.E233D

c.699G>C

1 paper

NM_001244008.2

p.A232T

c.694G>A

3 papers

NM_001244008.2

p.R229C

c.685C>T

6 papers

NM_001244008.2

p.N222H

c.664A>C

1 paper

NM_001244008.2

p.N222_I223insGAC

c.664_668ins9

2 papers

NM_001244008.2

p.V220I

c.658G>A

1 paper

NM_001244008.2

p.H218_A219Fs

c.654_655delinsGFs