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.R74Q

c.221G>A

Surrounding Variants

1 paper

NM_033427.3

p.R74W

c.220C>T

1 paper

NM_033427.3

p.Q72L

c.215A>T

1 paper

NM_033427.3

p.Q72R

c.215A>G

1 paper

NM_033427.3

p.R77G

c.229A>G

1 paper

NM_033427.3

p.V69L

c.205G>T

1 paper

NM_033427.3

p.V69L

c.205G>C

1 paper

NM_033427.3

p.R66S

c.198G>T

1 paper

NM_033427.3

p.R66S

c.198G>C

1 paper

NM_033427.3

p.D82G

c.245A>G

1 paper

NM_033427.3

p.R65L

c.194G>T

1 paper

NM_033427.3

p.R65H

c.194G>A

2 papers

NM_033427.3

p.R65C

c.193C>T