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.G679R

c.2035G>C

Surrounding Variants

1 paper

NM_033427.3

p.G679V

c.2036G>T

1 paper

NM_033427.3

p.R677T

c.2030G>C

1 paper

NM_033427.3

p.A680A

c.2040C>G

1 paper

NM_033427.3

p.S681P

c.2041T>C

1 paper

NM_033427.3

p.S681T

c.2041T>A

1 paper

NM_033427.3

p.D682N

c.2044G>A

1 paper

NM_033427.3

p.S683R

c.2047A>C

1 paper

NM_033427.3

p.S683R

c.2049C>G

1 paper

NM_033427.3

p.S683R

c.2049C>A

1 paper

NM_033427.3

p.A673V

c.2018C>T

1 paper

NM_033427.3

p.V686A

c.2057T>C

1 paper

NM_033427.3

p.V671I

c.2011G>A