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.T99A

c.295A>G

Surrounding Variants

1 paper

NM_001244008.2

p.T99_G100ins4

c.295_299ins12

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.Q98L

c.293A>T

1 paper

NM_001244008.2

p.G97R

c.289G>C

1 paper

NM_001244008.2

p.G97R

c.289G>A

1 paper

NM_001244008.2

p.Y89_Y96delFs

c.267_288del22

20 papers

NM_001244008.2

p.G102S

c.304G>A

1 paper

NM_001244008.2

p.G102A

c.305G>C

21 papers

NM_001244008.2

p.G102D

c.305G>A

1 paper

NM_001244008.2

p.F94_A95delFs

c.280_283del4

3 papers

NM_001244008.2

p.K103R

c.308A>G