Varaico: Literature-Extracted Genetic Variants

CTTNBP2

145 papers

RefSeq Summary

This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008...

Pfam Domains

CortBP2aa 35–139UCSCCortactin-binding protein-2

Ank_2aa 714–807UCSCAnkyrin repeats (3 copies)

Ank_2aa 799–875UCSCAnkyrin repeats (3 copies)

AAA_lid_NAV1aa 1296–1388UCSCNAV1-like, AAA+ ATPase lid domain

Gene Aliases

HGNC Name

cortactin binding protein 2

HGNC Previous Symbols

CORTBP2; C7orf8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_033427.3

p.V760delFs

c.2279_2280delCA

Surrounding Variants

1 paper

NM_033427.3

p.V760fs

c.2278_2279fs

1 paper

NM_033427.3

p.Q769_V770insFs

c.2307_2308insA

1 paper

NM_001363349.1

p.Q769_G770insFs

c.2307_2308insA

1 paper

NM_033427.3

p.H789H

c.2367T>C

1 paper

NM_033427.3

p.E791K

c.2371G>A

1 paper

NM_033427.3

p.D758Splc

c.2272+11C>T

1 paper

NM_033427.3

p.K753T

c.2258A>C

1 paper

NM_001363349.1

p.S728_A729insFs

c.2184_2185insA

1 paper

NM_033427.3

p.L730V

c.2188C>G

1 paper

NM_033427.3

p.M728_L729insFs

c.2184_2185insA

1 paper

NM_033427.3

p.A708V

c.2123C>T

1 paper

NM_033427.3

p.L707M

c.2119C>A