Varaico: Literature-Extracted Genetic Variants

Gene:HOOK1
Variant:p.R511Splc

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.R511Splc
c.1533-1G>C
Surrounding Variants
1 paper
NM_015888.6
p.R516H
c.1547G>A
1 paper
NM_015888.6
p.M554Splc
c.1662-1G>A
1 paper
NM_015888.6
p.L506P
c.1517T>C
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.L492H
c.1475T>A
1 paper
NM_015888.6
p.R488C
c.1462C>T
1 paper
NM_015888.6
p.E487*
c.1459G>T
1 paper
NM_015888.6
p.L592delFs
c.1774_1775delCT
1 paper
NM_015888.6
p.E603_E604insG
c.1807_1811ins3
1 paper
NM_015888.6
p.M608I
c.1824G>A
1 paper
NM_015888.6
p.M608I
c.1824G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."