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

2 papers

NM_033427.3

p.G576R

c.1726G>A

Surrounding Variants

2 papers

NM_033427.3

p.G576R

c.1726G>C

1 paper

NM_033427.3

p.N574I

c.1721A>T

1 paper

NM_033427.3

p.K578T

c.1733A>C

1 paper

NM_033427.3

p.S573L

c.1718C>T

1 paper

NM_033427.3

p.D580Y

c.1738G>T

1 paper

NM_033427.3

p.A572P

c.1714G>C

1 paper

NM_033427.3

p.N581D

c.1741A>G

1 paper

NM_033427.3

p.N581I

c.1742A>T

1 paper

NM_033427.3

p.K582E

c.1744A>G

1 paper

NM_033427.3

p.K582R

c.1745A>G

1 paper

NM_033427.3

p.S569G

c.1705A>G

1 paper

NM_001363349.1

p.T565T

c.1695T>A