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

21 papers

NM_001244008.2

p.G102D

c.305G>A

Surrounding Variants

1 paper

NM_001244008.2

p.G102A

c.305G>C

20 papers

NM_001244008.2

p.G102S

c.304G>A

3 papers

NM_001244008.2

p.K103R

c.308A>G

4 papers

NM_001244008.2

p.K103T

c.308A>C

45 papers

NM_001244008.2

p.T99M

c.296C>T

1 paper

NM_001244008.2

p.T99K

c.296C>A

1 paper

NM_001244008.2

p.T99A

c.295A>G

1 paper

NM_001244008.2

p.T99_G100ins4

c.295_299ins12

1 paper

NM_001244008.2

p.T106P

c.316A>C

1 paper

NM_001244008.2

p.T106I

c.317C>T

6 papers

NM_001244008.2

p.T106N

c.317C>A

1 paper

NM_001244008.2

p.Q98L

c.293A>T