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.A68V

c.203C>T

Surrounding Variants

25 papers

NM_001244008.2

p.S69L

c.206C>T

1 paper

NM_001244008.2

p.K71*

c.211A>T

4 papers

NM_001244008.2

p.V73G

c.218T>G

2 papers

NM_001244008.2

p.Y74H

c.220T>C

8 papers

NM_001244008.2

p.Y74C

c.221A>G

1 paper

NM_001244008.2

p.Y74_R75ins1

c.222_223insGAC

1 paper

NM_001244008.2

p.Y74_R75ins1

c.222_223ins3

7 papers

NM_001244008.2

p.R75W

c.223C>T

6 papers

NM_001244008.2

p.G78S

c.232G>A

1 paper

NM_001244008.2

p.E80V

c.239A>T

1 paper

NM_001244008.2

p.Q83L

c.248A>T

1 paper

NM_001244008.2

p.Q83Q

c.249G>A