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.P550T

c.1648C>A

Surrounding Variants

1 paper

NM_033427.3

p.K549fs

c.1645_1646fs

1 paper

NM_033427.3

p.P547S

c.1639C>T

1 paper

NM_033427.3

p.S553F

c.1658C>T

1 paper

NM_033427.3

p.N541Y

c.1621A>T

1 paper

NM_033427.3

p.N541H

c.1621A>C

1 paper

NM_033427.3

p.P559Q

c.1676C>A

1 paper

NM_033427.3

p.P561S

c.1681C>T

1 paper

NM_033427.3

p.P561L

c.1682C>T

1 paper

NM_033427.3

p.R536P

c.1607G>C

2 papers

NM_033427.3

p.R536Q

c.1607G>A

4 papers

NM_033427.3

p.R536*

c.1606C>T

1 paper

NM_033427.3

p.K564N

c.1692G>T