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.A903T

c.2707G>A

Surrounding Variants

1 paper

NM_033427.3

p.W914_T915insC

c.2740_2744ins3

1 paper

NM_033427.3

p.G889E

c.2666G>A

4 papers

NM_033427.3

p.H918Y

c.2752C>T

1 paper

NM_033427.3

p.A920S

c.2758G>T

1 paper

NM_033427.3

p.F884_D885delFs

c.2652_2653delCA

1 paper

NM_001363350.1

p.A221delFs

c.663delA

2 papers

NM_033427.3

p.F884delFs

c.2651_2652delAA

1 paper

NM_033427.3

p.F884fs

c.2650_2651fs

1 paper

NM_033427.3

p.I867M

c.2601A>G

1 paper

NM_033427.3

p.L862delFs

c.2585delA

1 paper

NM_033427.3

p.L859F

c.2575C>T

1 paper

NM_033427.3

p.D852Y

c.2554G>T