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.A130S

c.388G>T

Surrounding Variants

1 paper

NM_033427.3

p.L129P

c.386T>C

1 paper

NM_033427.3

p.L129M

c.385C>A

1 paper

NM_033427.3

p.Q128R

c.383A>G

1 paper

NM_033427.3

p.Q128P

c.383A>C

1 paper

NM_033427.3

p.A132V

c.395C>T

1 paper

NM_033427.3

p.A127V

c.380C>T

1 paper

NM_033427.3

p.A127T

c.379G>A

1 paper

NM_033427.3

p.S126A

c.376T>G

1 paper

NM_033427.3

p.M125I

c.375G>T

1 paper

NM_033427.3

p.M125I

c.375G>C

1 paper

NM_033427.3

p.M125I

c.375G>A

1 paper

NM_033427.3

p.R124K

c.371G>A