Varaico: Literature-Extracted Genetic Variants

Gene:HOOK3
Variant:p.E8D

HOOK3

63 papers

RefSeq Summary

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. Th...

Pfam Domains

HOOK_Naa 11–156UCSCHOOK domain
HOOKaa 197–709UCSCHOOK protein coiled-coil region

Gene Aliases

HGNC Name

hook microtubule tethering protein 3

HGNC Previous Name

hook homolog 3 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032410.4
p.E8D
c.24G>T
Surrounding Variants
1 paper
NM_032410.4
p.M1_F2insFs
c.3_4insA
1 paper
NM_032410.4
p.M1insFs
c.3dupG
1 paper
NM_032410.4
p.Q21P
c.62A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."