Varaico: Literature-Extracted Genetic Variants

Gene:HOOK2
Variant:p.E260G

HOOK2

39 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 7–152UCSCHOOK domain
HOOKaa 192–705UCSCHOOK protein coiled-coil region

Gene Aliases

HGNC Name

hook microtubule tethering protein 2

HGNC Previous Name

hook homolog 2 (Drosophila)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013312.3
p.E260G
c.779A>G
Surrounding Variants
1 paper
NM_013312.3
p.R254G
c.760A>G
1 paper
NM_013312.3
p.A274V
c.821C>T
1 paper
NM_013312.3
p.A282V
c.845C>T
1 paper
NM_013312.3
p.M297I
c.891G>T
1 paper
NM_013312.3
p.M297I
c.891G>C
1 paper
NM_013312.3
p.M297I
c.891G>A
1 paper
NM_013312.3
p.G232V
c.695G>T
1 paper
NM_013312.3
p.S205L
c.614C>T
1 paper
NM_013312.3
p.R199W
c.595C>T
1 paper
NM_013312.3
p.R193insFs
c.578_579insA
1 paper
NM_013312.3
p.R320H
c.959G>A
1 paper
NM_013312.3
p.R328Q
c.983G>A
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