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.V33M

c.97G>A

Surrounding Variants

1 paper

NM_033427.3

p.D32G

c.95A>G

1 paper

NM_033427.3

p.D34V

c.101A>T

1 paper

NM_033427.3

p.T35I

c.104C>T

1 paper

NM_033427.3

p.L36V

c.106C>G

1 paper

NM_033427.3

p.K29E

c.85A>G

1 paper

NM_033427.3

p.L36del1

c.106_108delGAG

2 papers

NM_033427.3

p.K38*

c.112A>T

1 paper

NM_033427.3

p.K38E

c.112A>G

2 papers

NM_033427.3

p.K38I

c.113A>T

1 paper

NM_033427.3

p.K38N

c.114A>T

1 paper

NM_033427.3

p.K38N

c.114A>C

1 paper

NM_033427.3

p.E40K

c.118G>A