Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1

HOOK1

64 papers

RefSeq Summary

This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to...

Pfam Domains

HOOK_Naa 13–158UCSCHOOK domain
HOOKaa 199–719UCSCHOOK protein coiled-coil region

Gene Aliases

HGNC Name

hook microtubule tethering protein 1

HGNC Previous Name

hook homolog 1 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
3 papers
NM_015888.6
p.I283T
c.848T>C
3 papers
NM_015888.6
p.Q286R
c.857A>G
2 papers
NM_015888.6
p.A28V
c.83C>T
2 papers
NM_015888.6
p.I108V
c.322A>G
2 papers
NM_015888.6
p.S433L
c.1298C>T
2 papers
NM_015888.6
p.S683F
c.2048C>T
2 papers
NM_015888.6
p.R702W
c.2104C>T
2 papers
NM_015888.6
p.H710R
c.2129A>G
1 paper
NM_015888.6
p.M1insFs
c.2dupT
1 paper
NM_015888.6
p.M1delFs
c.2delT
1 paper
NM_015888.6
p.M1T
c.2T>C
1 paper
NM_015888.6
p.M1insFs
c.3dupG
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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."