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.R124K

c.371G>A

Surrounding Variants

1 paper

NM_033427.3

p.E123G

c.368A>G

1 paper

NM_033427.3

p.M125I

c.375G>T

1 paper

NM_033427.3

p.M125I

c.375G>C

1 paper

NM_033427.3

p.M125I

c.375G>A

1 paper

NM_033427.3

p.S126A

c.376T>G

1 paper

NM_033427.3

p.Q122R

c.365A>G

2 papers

NM_033427.3

p.M121I

c.363G>T

2 papers

NM_033427.3

p.M121I

c.363G>C

3 papers

NM_033427.3

p.M121I

c.363G>A

1 paper

NM_033427.3

p.A127T

c.379G>A

1 paper

NM_033427.3

p.M121T

c.362T>C

1 paper

NM_033427.3

p.A127V

c.380C>T