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.R247W

c.739C>T

Surrounding Variants

1 paper

NM_033427.3

p.R247G

c.739C>G

1 paper

NM_033427.3

p.R247Q

c.740G>A

1 paper

NM_033427.3

p.N246T

c.737A>C

1 paper

NM_033427.3

p.E248K

c.742G>A

1 paper

NM_033427.3

p.E249A

c.746A>C

1 paper

NM_033427.3

p.A250T

c.748G>A

1 paper

NM_033427.3

p.K244E

c.730A>G

1 paper

NM_033427.3

p.A250V

c.749C>T

1 paper

NM_033427.3

p.A243T

c.727G>A

1 paper

NM_033427.3

p.H251Y

c.751C>T

1 paper

NM_033427.3

p.H251R

c.752A>G

1 paper

NM_033427.3

p.R242H

c.725G>A