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

6 papers

NM_001244008.2

p.R316Q

c.947G>A

Surrounding Variants

34 papers

NM_001244008.2

p.R316W

c.946C>T

1 paper

NM_001244008.2

p.E317*

c.949G>T

1 paper

NM_001244008.2

p.E317K

c.949G>A

1 paper

NM_001244008.2

p.L315L

c.945C>T

1 paper

NM_001244008.2

p.L314_L315delins

c.941_945delinsCCCTT

1 paper

NM_001244008.2

p.E317G

c.950A>G

2 papers

NM_001244008.2

p.L314P

c.941T>C

4 papers

NM_001244008.2

p.W313C

c.939G>T

4 papers

NM_001244008.2

p.W313C

c.939G>C

1 paper

NM_001244008.2

p.W313*

c.939G>A

1 paper

NM_001244008.2

p.W313*

c.938G>A

1 paper

NM_001244008.2

p.T312I

c.935C>T