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

5 papers

NM_001244008.2

p.G251R

c.751G>A

Surrounding Variants

4 papers

NM_001244008.2

p.G251R

c.751G>C

1 paper

NM_001244008.2

p.G251G

c.753G>C

5 papers

NM_001244008.2

p.S252R

c.754A>C

9 papers

NM_001244008.2

p.L249P

c.746T>C

15 papers

NM_001244008.2

p.L249Q

c.746T>A

5 papers

NM_001244008.2

p.S252R

c.756C>G

5 papers

NM_001244008.2

p.S252R

c.756C>A

40 papers

NM_001244008.2

p.E253K

c.757G>A

3 papers

NM_001244008.2

p.L249V

c.745C>G

5 papers

NM_001244008.2

p.D248E

c.744C>G

5 papers

NM_001244008.2

p.D248E

c.744C>A

2 papers

NM_001244008.2

p.D248G

c.743A>G