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.N457Y

c.1369A>T

Surrounding Variants

1 paper

NM_033427.3

p.N457N

c.1371C>T

1 paper

NM_033427.3

p.A456V

c.1367C>T

1 paper

NM_033427.3

p.D458N

c.1372G>A

1 paper

NM_033427.3

p.P459T

c.1375C>A

1 paper

NM_033427.3

p.Q461R

c.1382A>G

1 paper

NM_033427.3

p.F452V

c.1354T>G

1 paper

NM_033427.3

p.R451T

c.1352G>C

1 paper

NM_033427.3

p.F450Y

c.1349T>A

1 paper

NM_033427.3

p.T465A

c.1393A>G

1 paper

NM_001363349.1

p.A430insFs

c.1288_1289insTA

1 paper

NM_033427.3

p.A448T

c.1342G>A

1 paper

NM_033427.3

p.T466I

c.1397C>T