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.G183D

c.548G>A

Surrounding Variants

1 paper

NM_033427.3

p.V185I

c.553G>A

1 paper

NM_033427.3

p.K179T

c.536A>C

1 paper

NM_033427.3

p.E187D

c.561G>T

1 paper

NM_033427.3

p.E187D

c.561G>C

1 paper

NM_033427.3

p.A189D

c.566C>A

1 paper

NM_033427.3

p.K176Q

c.526A>C

1 paper

NM_033427.3

p.L174P

c.521T>C

1 paper

NM_033427.3

p.E193K

c.577G>A

1 paper

NM_033427.3

p.M173R

c.518T>G

1 paper

NM_033427.3

p.L172P

c.515T>C

1 paper

NM_033427.3

p.L172V

c.514C>G

1 paper

NM_033427.3

p.V195L

c.583G>T