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

31 papers

NM_001244008.2

p.R307Q

c.920G>A

Surrounding Variants

9 papers

NM_001244008.2

p.R307P

c.920G>C

1 paper

NM_001244008.2

p.Y306delFs

c.918delG

1 paper

NM_001244008.2

p.Y306_R307delFs

c.918_919delGG

8 papers

NM_001244008.2

p.R307G

c.919C>G

5 papers

NM_001244008.2

p.Y306delFs

c.917_918delGT

6 papers

NM_001244008.2

p.Y306C

c.917A>G

1 paper

NM_001244008.2

p.D308G

c.923A>G

1 paper

NM_001244008.2

p.S309P

c.925T>C

1 paper

NM_001244008.2

p.S309T

c.925T>A

40 papers

NM_001244008.2

p.P305L

c.914C>T

1 paper

NM_001244008.2

p.S309C

c.926C>G

1 paper

NM_001244008.2

p.I304delFs

c.911delA