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.V58F

c.172G>T

Surrounding Variants

1 paper

NM_033427.3

p.E60K

c.178G>A

1 paper

NM_033427.3

p.L41_E53del0

c.122_157del36

1 paper

NM_033427.3

p.R63W

c.187C>T

1 paper

NM_033427.3

p.R63Q

c.188G>A

1 paper

NM_033427.3

p.S46_E51del0

c.138_152del15

1 paper

NM_033427.3

p.M43_E49del0

c.128_145del18

1 paper

NM_033427.3

p.M48I

c.144G>T

1 paper

NM_033427.3

p.M48I

c.144G>C

1 paper

NM_033427.3

p.M48I

c.144G>A

1 paper

NM_033427.3

p.M48V

c.142A>G

1 paper

NM_033427.3

p.V47A

c.140T>C

3 papers

NM_033427.3

p.V47M

c.139G>A