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.R42Q

c.125G>A

Surrounding Variants

2 papers

NM_033427.3

p.R42W

c.124C>T

1 paper

NM_033427.3

p.S39_L41delins

c.116_122delinsC

1 paper

NM_033427.3

p.E40D

c.120G>T

1 paper

NM_033427.3

p.E40D

c.120G>C

1 paper

NM_033427.3

p.T35_E40del0

c.105_119del15

1 paper

NM_033427.3

p.E40K

c.118G>A

1 paper

NM_033427.3

p.M43_L44del1

c.129_131delAGC

1 paper

NM_033427.3

p.L41_L45del0

c.123_134del12

1 paper

NM_033427.3

p.K38N

c.114A>T

1 paper

NM_033427.3

p.S46G

c.136A>G

1 paper

NM_033427.3

p.K38N

c.114A>C

1 paper

NM_033427.3

p.S46N

c.137G>A