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.R283W

c.847C>T

Surrounding Variants

1 paper

NM_033427.3

p.R283L

c.848G>T

1 paper

NM_033427.3

p.R283Q

c.848G>A

1 paper

NM_033427.3

p.P282L

c.845C>T

1 paper

NM_033427.3

p.P282S

c.844C>T

1 paper

NM_033427.3

p.K284R

c.851A>G

1 paper

NM_033427.3

p.L281F

c.841C>T

1 paper

NM_033427.3

p.S280F

c.839C>T

1 paper

NM_033427.3

p.S280C

c.839C>G

1 paper

NM_033427.3

p.R289C

c.865C>T

1 paper

NM_033427.3

p.R289G

c.865C>G

1 paper

NM_033427.3

p.R289L

c.866G>T

2 papers

NM_033427.3

p.R289H

c.866G>A