Varaico: Literature-Extracted Genetic Variants

KIF13A

96 papers

RefSeq Summary

This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containin...

Pfam Domains

Kinesinaa 11–352UCSCKinesin motor domain

Kinesin_assocaa 382–470UCSCKinesin-associated

FHAaa 470–534UCSCFHA domain

KIF1Baa 748–792UCSCKinesin protein 1B

DUF3694aa 1204–1283UCSCKinesin protein

Gene Aliases

HGNC Name

kinesin family member 13A

HGNC Alias Symbols

bA500C11.2; RBKIN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022113.6

p.T104I

c.311C>T

Surrounding Variants

1 paper

NM_022113.6

p.I98S

c.293T>G

1 paper

NM_022113.6

p.C97fs

c.289_290fs

1 paper

NM_022113.6

p.G93E

c.278G>A

2 papers

NM_022113.6

p.G93R

c.277G>C

2 papers

NM_022113.6

p.G93R

c.277G>A

1 paper

NM_022113.6

p.G83W

c.247G>T

1 paper

NM_022113.6

p.G107E

c.320G>A

1 paper

NM_022113.6

p.S111delFs

c.331delA

1 paper

NM_022113.6

p.S111fs

c.331_332fs

1 paper

NM_022113.6

p.M112L

c.334A>T

1 paper

NM_022113.6

p.T142N

c.425C>A

1 paper

NM_022113.6

p.S148F

c.443C>T