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.F499_S501del3

c.1495_1502del9

Surrounding Variants

1 paper

NM_033427.3

p.P502S

c.1504C>T

1 paper

NM_033427.3

p.S501R

c.1503C>G

1 paper

NM_033427.3

p.S501R

c.1503C>A

1 paper

NM_033427.3

p.S501R

c.1501A>C

1 paper

NM_033427.3

p.A504S

c.1510G>T

1 paper

NM_033427.3

p.F499L

c.1497T>G

1 paper

NM_033427.3

p.F499L

c.1497T>A

1 paper

NM_033427.3

p.F499L

c.1495T>C

1 paper

NM_033427.3

p.R498S

c.1494A>T

1 paper

NM_033427.3

p.R498S

c.1494A>C

1 paper

NM_033427.3

p.R498I

c.1493G>T

1 paper

NM_033427.3

p.A506S

c.1516G>T