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.K1582_E1583Splc

c.4747-13T>C

Surrounding Variants

1 paper

NM_033427.3

p.K1582_E1583Splc

c.4747-9C>T

1 paper

NM_033427.3

p.K1582_E1583Splc

c.4747-19G>A

1 paper

NM_033427.3

p.K1582_E1583Splc

c.4747-21G>A

1 paper

NM_033427.3

p.K1582_E1583Splc

c.4747-23G>T

1 paper

NM_033427.3

p.K1582_E1583Splc

c.4747-27A>T

1 paper

NM_033427.3

p.E1583E

c.4749G>A

1 paper

NM_033427.3

p.V1584insFs

c.4750dupG

1 paper

NM_033427.3

p.V1584V

c.4752C>T

5 papers

NM_033427.3

p.P1586L

c.4757C>T

1 paper

NM_033427.3

p.P1586P

c.4758T>G

1 paper

NM_033427.3

p.K1582_E1583Splc

c.4747-38G>A

1 paper

NM_033427.3

p.S1588N

c.4763G>A