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.M326V

c.976A>G

Surrounding Variants

1 paper

NM_033427.3

p.M326I

c.978G>T

1 paper

NM_033427.3

p.M326I

c.978G>C

1 paper

NM_033427.3

p.M326I

c.978G>A

1 paper

NM_033427.3

p.T325I

c.974C>T

1 paper

NM_033427.3

p.P327A

c.979C>G

1 paper

NM_033427.3

p.V328I

c.982G>A

1 paper

NM_033427.3

p.V328A

c.983T>C

1 paper

NM_033427.3

p.L322F

c.966G>T

1 paper

NM_033427.3

p.L322F

c.966G>C

1 paper

NM_033427.3

p.S331F

c.992C>T

1 paper

NM_033427.3

p.T332A

c.994A>G

1 paper

NM_033427.3

p.P335L

c.1004C>T