Varaico: Literature-Extracted Genetic Variants

Gene:CKAP5
Variant:p.Q813R

CKAP5

122 papers

RefSeq Summary

This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains ...

Pfam Domains

XMAP215_CLASP_TOGaa 6–218UCSCXMAP215/Dis1/CLASP, TOG domain
HEATaa 440–470UCSCHEAT repeat
XMAP215_CLASP_TOGaa 603–809UCSCXMAP215/Dis1/CLASP, TOG domain
CLASP_Naa 855–1069UCSCCLASP N terminal
XMAP215_CLASP_TOGaa 1242–1420UCSCXMAP215/Dis1/CLASP, TOG domain

Gene Aliases

HGNC Name

cytoskeleton associated protein 5

HGNC Alias Symbols

ch-TOG; KIAA0097; TOG; TOGp

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001008938.4
p.Q813R
c.2438A>G
Surrounding Variants
1 paper
NM_001008938.4
p.H827R
c.2480A>G
1 paper
NM_001008938.4
p.G870C
c.2608G>T
1 paper
NM_001008938.4
p.E879K
c.2635G>A
1 paper
NM_001008938.4
p.P896P
c.2688G>A
1 paper
NM_001008938.4
p.S953R
c.2857A>C
1 paper
NM_001008938.4
p.S953R
c.2859C>G
1 paper
NM_001008938.4
p.S953R
c.2859C>A
1 paper
NM_001008938.4
p.A800V
c.2399C>T
1 paper
NM_001008938.4
p.G787D
c.2360G>A
1 paper
NM_001008938.4
p.V781M
c.2341G>A
1 paper
NM_001008938.4
p.G780V
c.2339G>T
1 paper
NM_001008938.4
p.A763S
c.2287G>T
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