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

1 paper

NM_033427.3

p.A638S

c.1912G>T

Surrounding Variants

1 paper

NM_033427.3

p.A638D

c.1913C>A

1 paper

NM_033427.3

p.A642S

c.1924G>T

1 paper

NM_033427.3

p.T633M

c.1898C>T

1 paper

NM_033427.3

p.T643S

c.1927A>T

1 paper

NM_033427.3

p.T643S

c.1928C>G

1 paper

NM_033427.3

p.T643N

c.1928C>A

1 paper

NM_033427.3

p.G645R

c.1933G>C

1 paper

NM_033427.3

p.G645R

c.1933G>A

1 paper

NM_033427.3

p.S629T

c.1885T>A

1 paper

NM_033427.3

p.N647S

c.1940A>G

1 paper

NM_033427.3

p.N647K

c.1941C>G

1 paper

NM_033427.3

p.N647K

c.1941C>A