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

3 papers

NM_033427.3

p.V47M

c.139G>A

Surrounding Variants

1 paper

NM_033427.3

p.L41_S46del0

c.121_138del18

1 paper

NM_033427.3

p.K38_S46del0

c.112_138del27

1 paper

NM_033427.3

p.T35_S46del0

c.103_138del36

1 paper

NM_033427.3

p.V47A

c.140T>C

1 paper

NM_033427.3

p.S46N

c.137G>A

1 paper

NM_033427.3

p.M48V

c.142A>G

1 paper

NM_033427.3

p.S46G

c.136A>G

1 paper

NM_033427.3

p.L41_L45del0

c.123_134del12

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.M43_L44del1

c.129_131delAGC