Varaico: Literature-Extracted Genetic Variants

Gene:HOOK2
Variant:p.H488Q

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.H488Q
c.1464C>A
Surrounding Variants
1 paper
NM_013312.3
p.H488Q
c.1464C>G
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.E500K
c.1498G>A
1 paper
NM_013312.3
p.H503Y
c.1507C>T
1 paper
NM_013312.3
p.L547Splc
c.1641-15A>T
1 paper
NM_013312.3
p.R422R
c.1266C>G
1 paper
NM_013312.3
p.E398fs
c.1192_1193fs
1 paper
NM_013312.3
p.E394*
c.1180G>T
1 paper
NM_013312.3
p.C390insFs
c.1168_1169insC
1 paper
NM_013312.3
p.R641C
c.1921C>T
1 paper
NM_013312.3
p.R643*
c.1927C>T
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