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

1–12 of 1225 variants

5 papers

NM_033427.3

p.P1586L

c.4757C>T

4 papers

NM_033427.3

p.R536*

c.1606C>T

4 papers

NM_033427.3

p.H918Y

c.2752C>T

3 papers

NM_033427.3

p.V47M

c.139G>A

3 papers

NM_033427.3

p.A113T

c.337G>A

3 papers

NM_033427.3

p.M121I

c.363G>A

3 papers

NM_033427.3

p.A215T

c.643G>A

3 papers

NM_033427.3

p.G343R

c.1027G>C

3 papers

NM_033427.3

p.G343R

c.1027G>A

3 papers

NM_033427.3

p.V760delFs

c.2279_2280delCA

3 papers

NM_033427.3

p.L1213V

c.3637T>G

3 papers

NM_033427.3

p.R1219C

c.3655C>T