Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.M1insFs

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
Selected Variant
1 paper
NM_015888.6
p.M1insFs
c.2dupT
Surrounding Variants
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
1 paper
NM_015888.6
p.P6P
c.18G>A
1 paper
NM_015888.6
p.L12P
c.35T>C
1 paper
NM_015888.6
p.C15Y
c.44G>A
1 paper
NM_015888.6
p.M19V
c.55A>G
2 papers
NM_015888.6
p.A28V
c.83C>T
1 paper
NM_015888.6
p.A42P
c.124G>C
1 paper
NM_015888.6
p.H48_Q49del1
c.143_145delATC
1 paper
NM_015888.6
p.H48Y
c.142C>T
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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."