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.P609R

c.1826C>G

Surrounding Variants

1 paper

NM_033427.3

p.Q610P

c.1829A>C

1 paper

NM_033427.3

p.S607F

c.1820C>T

1 paper

NM_033427.3

p.S606L

c.1817C>T

1 paper

NM_033427.3

p.P612P

c.1836A>C

1 paper

NM_033427.3

p.K605N

c.1815G>T

1 paper

NM_033427.3

p.K605N

c.1815G>C

1 paper

NM_033427.3

p.P604S

c.1810C>T

1 paper

NM_033427.3

p.N602K

c.1806C>G

1 paper

NM_033427.3

p.N602K

c.1806C>A

1 paper

NM_033427.3

p.S616C

c.1847C>G

1 paper

NM_033427.3

p.I617V

c.1849A>G

1 paper

NM_033427.3

p.I617T

c.1850T>C