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.P400L

c.1199C>T

Surrounding Variants

1 paper

NM_033427.3

p.L401F

c.1201C>T

1 paper

NM_033427.3

p.L401I

c.1201C>A

1 paper

NM_033427.3

p.P402R

c.1205C>G

1 paper

NM_033427.3

p.S397R

c.1191C>G

1 paper

NM_033427.3

p.S397R

c.1191C>A

1 paper

NM_033427.3

p.S403G

c.1207A>G

2 papers

NM_033427.3

p.S403R

c.1207A>C

1 paper

NM_001363349.1

p.S385insFs

c.1154_1155insTC

2 papers

NM_033427.3

p.S403R

c.1209T>G

2 papers

NM_033427.3

p.S403R

c.1209T>A

1 paper

NM_033427.3

p.S397R

c.1189A>C

1 paper

NM_033427.3

p.S396N

c.1187G>A