Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.E136Splc

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.E136Splc
c.406+623G>A
Surrounding Variants
1 paper
NM_015888.6
p.G126_C127delFs
c.378_379delTT
1 paper
NM_015888.6
p.G126S
c.376G>A
1 paper
NM_015888.6
p.G126R
c.376G>C
1 paper
NM_015888.6
p.L123L
c.369T>A
1 paper
NM_015888.6
p.V115M
c.343G>A
1 paper
NM_015888.6
p.S112delFs
c.335_336delCA
1 paper
NM_015888.6
p.E110K
c.328G>A
2 papers
NM_015888.6
p.I108V
c.322A>G
1 paper
NM_015888.6
p.P103H
c.308C>A
1 paper
NM_015888.6
p.P103S
c.307C>T
1 paper
NM_015888.6
p.L101insFs
c.302dupT
1 paper
NM_015888.6
p.T143_E145del3
c.427_434del9
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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."