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.Y89C

c.266A>G

Surrounding Variants

7 papers

NM_001244008.2

p.Y89D

c.265T>G

5 papers

NM_001244008.2

p.C92R

c.274T>C

1 paper

NM_001244008.2

p.C92insFs

c.275_276ins2

5 papers

NM_001244008.2

p.C92insFs

c.275_276insAA

5 papers

NM_001244008.2

p.C92*

c.276C>A

9 papers

NM_001244008.2

p.A85D

c.254C>A

1 paper

NM_001244008.2

p.I93delFs

c.279delG

1 paper

NM_001244008.2

p.Q83Q

c.249G>A

1 paper

NM_001244008.2

p.F94_A95delFs

c.280_283del4

1 paper

NM_001244008.2

p.Q83L

c.248A>T

1 paper

NM_001244008.2

p.G97R

c.289G>C

1 paper

NM_001244008.2

p.G97R

c.289G>A