Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.V461A

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.V461A
c.1382T>C
Surrounding Variants
1 paper
NM_015888.6
p.R464T
c.1391G>C
1 paper
NM_015888.6
p.A455V
c.1364C>T
1 paper
NM_015888.6
p.L454F
c.1360C>T
1 paper
NM_015888.6
p.K449E
c.1345A>G
1 paper
NM_015888.6
p.D444Splc
c.1331-2A>T
2 papers
NM_015888.6
p.S433L
c.1298C>T
1 paper
NM_015888.6
p.E487*
c.1459G>T
1 paper
NM_015888.6
p.R488C
c.1462C>T
1 paper
NM_015888.6
p.L492H
c.1475T>A
1 paper
NM_015888.6
p.Q493H
c.1479G>C
1 paper
NM_015888.6
p.Q493H
c.1479G>T
1 paper
NM_015888.6
p.L506P
c.1517T>C
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