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.E267D

c.801G>C

Surrounding Variants

1 paper

NM_033427.3

p.E267D

c.801G>T

1 paper

NM_033427.3

p.I266T

c.797T>C

1 paper

NM_033427.3

p.M265I

c.795G>T

1 paper

NM_033427.3

p.M265I

c.795G>C

1 paper

NM_033427.3

p.M265I

c.795G>A

1 paper

NM_033427.3

p.R263K

c.788G>A

1 paper

NM_033427.3

p.M262T

c.785T>C

1 paper

NM_033427.3

p.S273I

c.818G>T

1 paper

NM_033427.3

p.S273N

c.818G>A

1 paper

NM_033427.3

p.D260G

c.779A>G

1 paper

NM_033427.3

p.D260N

c.778G>A

1 paper

NM_033427.3

p.E258A

c.773A>C