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.T309I

c.926C>T

Surrounding Variants

1 paper

NM_033427.3

p.Q308H

c.924G>T

1 paper

NM_033427.3

p.Q308H

c.924G>C

1 paper

NM_033427.3

p.A306fs

c.916_917fs

1 paper

NM_033427.3

p.A306insFs

c.916dupG

1 paper

NM_033427.3

p.A306S

c.916G>T

1 paper

NM_033427.3

p.A306T

c.916G>A

1 paper

NM_033427.3

p.V305insFs

c.914_915insC

1 paper

NM_033427.3

p.E314K

c.940G>A

1 paper

NM_033427.3

p.N315D

c.943A>G

1 paper

NM_033427.3

p.N315S

c.944A>G

1 paper

NM_033427.3

p.A316V

c.947C>T

1 paper

NM_033427.3

p.V301M

c.901G>A