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.C346F

c.1037G>T

Surrounding Variants

1 paper

NM_033427.3

p.T347P

c.1039A>C

1 paper

NM_033427.3

p.V345M

c.1033G>A

1 paper

NM_033427.3

p.S344R

c.1032C>G

1 paper

NM_033427.3

p.S344R

c.1032C>A

1 paper

NM_033427.3

p.S344R

c.1030A>C

3 papers

NM_033427.3

p.G343R

c.1027G>C

3 papers

NM_033427.3

p.G343R

c.1027G>A

1 paper

NM_033427.3

p.T350A

c.1048A>G

1 paper

NM_033427.3

p.A341V

c.1022C>T

1 paper

NM_033427.3

p.A352P

c.1054G>C

2 papers

NM_033427.3

p.P354A

c.1060C>G

1 paper

NM_033427.3

p.S338P

c.1012T>C