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

2 papers

NM_022113.6

p.Q380L

c.1139A>T

Surrounding Variants

1 paper

NM_022113.6

p.A384S

c.1150G>T

1 paper

NM_022113.6

p.V374G

c.1121T>G

1 paper

NM_022113.6

p.A364T

c.1090G>A

1 paper

NM_022113.6

p.N363N

c.1089C>T

1 paper

NM_022113.6

p.N335Y

c.1003A>T

1 paper

NM_022113.6

p.T328S

c.982A>T

1 paper

NM_022113.6

p.D306Y

c.916G>T

2 papers

NM_022113.6

p.E397K

c.1189G>A

1 paper

NM_022113.6

p.T407I

c.1220C>T

1 paper

NM_022113.6

p.I433fs

c.1297_1298fs

1 paper

NM_022113.6

p.M437V

c.1309A>G

1 paper

NM_022113.6

p.G439R

c.1315G>C