Varaico: Literature-Extracted Genetic Variants

Gene:HOOK3
Variant:p.Q657*

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
2 papers
NM_032410.4
p.Q657*
c.1969C>T
Surrounding Variants
1 paper
NM_032410.4
p.T654K
c.1961C>A
1 paper
NM_032410.4
p.E609Q
c.1825G>C
1 paper
NM_032410.4
p.R603Q
c.1808G>A
1 paper
NM_032410.4
p.R603*
c.1807C>T
1 paper
NM_032410.4
p.R591_K592delFs
c.1772_1775del4
1 paper
NM_032410.4
p.R591_K592del2
c.1771_1775del6
1 paper
NM_032410.4
p.A680V
c.2039C>T
1 paper
NM_032410.4
p.L695L
c.2083C>T
1 paper
NM_032410.4
p.Q698H
c.2094G>C
1 paper
NM_032410.4
p.Q698H
c.2094G>T
1 paper
NM_032410.4
p.S707L
c.2120C>T
1 paper
NM_032410.4
p.G710S
c.2128G>A
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