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

1–12 of 119 variants

2 papers

NM_022113.6

p.G93R

c.277G>C

2 papers

NM_022113.6

p.G93R

c.277G>A

2 papers

NM_022113.6

p.Q380L

c.1139A>T

2 papers

NM_022113.6

p.E397K

c.1189G>A

1 paper

NM_022113.6

p.G32Fs

c.96delinsTGFs

1 paper

NM_022113.6

p.K53_V54Splc

c.160-8566A>T

1 paper

NM_022113.6

p.T70P

c.208A>C

1 paper

NM_022113.6

p.G83W

c.247G>T

1 paper

NM_022113.6

p.G93E

c.278G>A

1 paper

NM_022113.6

p.C97fs

c.289_290fs

1 paper

NM_022113.6

p.I98S

c.293T>G

1 paper

NM_022113.6

p.T104I

c.311C>T