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.G519S

c.1555G>A

Surrounding Variants

1 paper

NM_033427.3

p.G519D

c.1556G>A

1 paper

NM_033427.3

p.D517G

c.1550A>G

1 paper

NM_033427.3

p.G516delFs

c.1548delC

1 paper

NM_033427.3

p.D517N

c.1549G>A

1 paper

NM_033427.3

p.G516E

c.1547G>A

1 paper

NM_033427.3

p.G516R

c.1546G>C

1 paper

NM_033427.3

p.G516R

c.1546G>A

1 paper

NM_033427.3

p.P523S

c.1567C>T

1 paper

NM_033427.3

p.T515A

c.1543A>G

1 paper

NM_033427.3

p.P514R

c.1541C>G

1 paper

NM_033427.3

p.V524I

c.1570G>A

1 paper

NM_033427.3

p.P513A

c.1537C>G