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.K373Q

c.1117A>C

Surrounding Variants

2 papers

NM_001244008.2

p.R370H

c.1109G>A

4 papers

NM_001244008.2

p.R370C

c.1108C>T

2 papers

NM_001244008.2

p.T377I

c.1130C>T

1 paper

NM_001244008.2

p.R378W

c.1132C>T

1 paper

NM_001244008.2

p.K367_L368insFs

c.1101_1102insT

5 papers

NM_001244008.2

p.R380W

c.1138C>T

5 papers

NM_001244008.2

p.R380P

c.1139G>C

1 paper

NM_001244008.2

p.R380Q

c.1139G>A

2 papers

NM_001244008.2

p.P364L

c.1091C>T

1 paper

NM_001244008.2

p.N361_E362delFs

c.1082_1085del4

1 paper

NM_001244008.2

p.V359I

c.1075G>A

4 papers

NM_001244008.2

p.R355H

c.1064G>A