Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.D621insFs

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.D621insFs
c.1862dupA
Surrounding Variants
1 paper
NM_015888.6
p.V616I
c.1846G>A
1 paper
NM_015888.6
p.M608I
c.1824G>A
1 paper
NM_015888.6
p.M608I
c.1824G>C
1 paper
NM_015888.6
p.M608I
c.1824G>T
1 paper
NM_015888.6
p.E603_E604insG
c.1807_1811ins3
1 paper
NM_015888.6
p.L592delFs
c.1774_1775delCT
1 paper
NM_015888.6
p.F657F
c.1971C>T
1 paper
NM_015888.6
p.R658C
c.1972C>T
1 paper
NM_015888.6
p.E661A
c.1982A>C
1 paper
NM_015888.6
p.E662A
c.1985A>C
1 paper
NM_015888.6
p.M554Splc
c.1662-1G>A
1 paper
NM_015888.6
p.S673N
c.2018G>A
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