Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.I283T

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
3 papers
NM_015888.6
p.I283T
c.848T>C
Surrounding Variants
3 papers
NM_015888.6
p.Q286R
c.857A>G
1 paper
NM_015888.6
p.R288T
c.863G>C
1 paper
NM_015888.6
p.A301D
c.902C>A
1 paper
NM_015888.6
p.L319L
c.955C>T
1 paper
NM_015888.6
p.L330L
c.988C>T
1 paper
NM_015888.6
p.Q331*
c.991C>T
1 paper
NM_015888.6
p.L333P
c.998T>C
1 paper
NM_015888.6
p.D335_L336del2
c.1003_1007del6
1 paper
NM_015888.6
p.R337C
c.1009C>T
1 paper
NM_015888.6
p.L343L
c.1029A>G
1 paper
NM_015888.6
p.L357insFs
c.1069_1070insAC
1 paper
NM_015888.6
p.L361fs
c.1081_1082fs
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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."