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.K113M

c.338A>T

Surrounding Variants

1 paper

NM_001244008.2

p.D114Y

c.340G>T

1 paper

NM_001244008.2

p.E112*

c.334G>T

1 paper

NM_001244008.2

p.D114del1

c.340_342delGTC

3 papers

NM_001244008.2

p.G117V

c.350G>T

2 papers

NM_001244008.2

p.G109V

c.326G>T

3 papers

NM_001244008.2

p.G117D

c.350G>A

4 papers

NM_001244008.2

p.I119T

c.356T>C

1 paper

NM_001244008.2

p.M107L

c.319A>T

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.T106P

c.316A>C

1 paper

NM_001244008.2

p.Q121R

c.362A>G