Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.E661A

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.E661A
c.1982A>C
Surrounding Variants
1 paper
NM_015888.6
p.E662A
c.1985A>C
1 paper
NM_015888.6
p.R658C
c.1972C>T
1 paper
NM_015888.6
p.F657F
c.1971C>T
1 paper
NM_015888.6
p.S673N
c.2018G>A
2 papers
NM_015888.6
p.S683F
c.2048C>T
1 paper
NM_015888.6
p.S687insFs
c.2061dupC
1 paper
NM_015888.6
p.G689S
c.2065G>A
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.R716K
c.2147G>A
1 paper
NM_015888.6
p.T725A
c.2173A>G
1 paper
NM_015888.6
p.D621insFs
c.1862dupA
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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."