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.S420L

c.1259C>T

Surrounding Variants

1 paper

NM_033427.3

p.Q421E

c.1261C>G

1 paper

NM_033427.3

p.A422P

c.1264G>C

1 paper

NM_033427.3

p.Q418*

c.1252C>T

1 paper

NM_033427.3

p.P417S

c.1249C>T

1 paper

NM_033427.3

p.P424S

c.1270C>T

1 paper

NM_033427.3

p.P424R

c.1271C>G

1 paper

NM_033427.3

p.I415V

c.1243A>G

1 paper

NM_033427.3

p.G414A

c.1241G>C

1 paper

NM_033427.3

p.H426P

c.1277A>C

1 paper

NM_033427.3

p.S427G

c.1279A>G

1 paper

NM_033427.3

p.H429Y

c.1285C>T

1 paper

NM_033427.3

p.Q411E

c.1231C>G