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.R203G

c.607A>G

Surrounding Variants

6 papers

NM_001244008.2

p.R203S

c.609G>T

6 papers

NM_001244008.2

p.R203S

c.609G>C

2 papers

NM_001244008.2

p.R203_T204delins

c.609_610delinsAAAAG

1 paper

NM_001244008.2

p.R203_T204delFs

c.609_610delTC

2 papers

NM_001244008.2

p.V205M

c.613G>A

1 paper

NM_001244008.2

p.V205V

c.615G>C

2 papers

NM_001244008.2

p.A206V

c.617C>T

2 papers

NM_001244008.2

p.M210T

c.629T>C

3 papers

NM_001244008.2

p.M210I

c.630G>T

3 papers

NM_001244008.2

p.M210I

c.630G>C

3 papers

NM_001244008.2

p.M210I

c.630G>A

2 papers

NM_001244008.2

p.N211H

c.631A>C