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.K205T

c.614A>C

Surrounding Variants

1 paper

NM_033427.3

p.T206M

c.617C>T

1 paper

NM_033427.3

p.E202K

c.604G>A

1 paper

NM_033427.3

p.E208D

c.624A>T

1 paper

NM_033427.3

p.E208D

c.624A>C

1 paper

NM_033427.3

p.E210Q

c.628G>C

1 paper

NM_033427.3

p.E211K

c.631G>A

1 paper

NM_033427.3

p.E211G

c.632A>G

1 paper

NM_033427.3

p.K198E

c.592A>G

1 paper

NM_033427.3

p.A197D

c.590C>A

2 papers

NM_033427.3

p.A197T

c.589G>A

3 papers

NM_033427.3

p.A215T

c.643G>A

1 paper

NM_033427.3

p.V195E

c.584T>A