Varaico: Literature-Extracted Genetic Variants

Gene:HOOK2
Variant:p.C390insFs

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.C390insFs
c.1168_1169insC
Surrounding Variants
1 paper
NM_013312.3
p.E394*
c.1180G>T
1 paper
NM_013312.3
p.E398fs
c.1192_1193fs
1 paper
NM_013312.3
p.R422R
c.1266C>G
1 paper
NM_013312.3
p.R367W
c.1099C>T
1 paper
NM_013312.3
p.L358P
c.1073T>C
1 paper
NM_013312.3
p.E351K
c.1051G>A
1 paper
NM_013312.3
p.H488Q
c.1464C>G
1 paper
NM_013312.3
p.H488Q
c.1464C>A
1 paper
NM_013312.3
p.L334P
c.1001T>C
1 paper
NM_013312.3
p.R496H
c.1487G>A
1 paper
NM_013312.3
p.R496R
c.1488C>T
1 paper
NM_013312.3
p.R328Q
c.983G>A
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