Varaico: Literature-Extracted Genetic Variants

Gene:KIF13A
Variant:p.K53_V54Splc

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.K53_V54Splc
c.160-8566A>T
Surrounding Variants
1 paper
NM_022113.6
p.T70P
c.208A>C
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