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

12 papers

NM_001244008.2

p.R350W

c.1048C>T

Surrounding Variants

31 papers

NM_001244008.2

p.R350G

c.1048C>G

1 paper

NM_001244008.2

p.R350L

c.1049G>T

1 paper

NM_001244008.2

p.A351P

c.1051G>C

1 paper

NM_001244008.2

p.A351T

c.1051G>A

1 paper

NM_001244008.2

p.A351V

c.1052C>T

1 paper

NM_001244008.2

p.Y347C

c.1040A>G

4 papers

NM_001244008.2

p.R346S

c.1038G>T

4 papers

NM_001244008.2

p.R346S

c.1038G>C

1 paper

NM_001244008.2

p.R346Splc

c.1038-1G>C

4 papers

NM_001244008.2

p.R346Splc

c.1038-1G>A

1 paper

NM_001244008.2

p.R346W

c.1036A>T

1 paper

NM_001244008.2

p.R346Splc

c.1038-3C>G