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

3 papers

NM_033427.3

p.L1213V

c.3637T>G

Surrounding Variants

1 paper

NM_033427.3

p.D1211D

c.3633C>T

1 paper

NM_033427.3

p.D1211Y

c.3631G>T

1 paper

NM_033427.3

p.P1215P

c.3645T>A

1 paper

NM_033427.3

p.L1216L

c.3648T>C

3 papers

NM_033427.3

p.R1219C

c.3655C>T

1 paper

NM_033427.3

p.S1206S

c.3618G>A

1 paper

NM_033427.3

p.S1204delFs

c.3611delG

1 paper

NM_033427.3

p.K1202K

c.3606A>G

1 paper

NM_033427.3

p.E1201*

c.3601G>T

1 paper

NM_033427.3

p.L1197*

c.3590T>G

1 paper

NM_033427.3

p.L1197*

c.3590T>A

1 paper

NM_033427.3

p.K1229K

c.3687A>G