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.A158D

c.473C>A

Surrounding Variants

1 paper

NM_033427.3

p.A158P

c.472G>C

1 paper

NM_033427.3

p.A158T

c.472G>A

1 paper

NM_033427.3

p.R159C

c.475C>T

1 paper

NM_033427.3

p.R159S

c.475C>A

1 paper

NM_033427.3

p.R159H

c.476G>A

1 paper

NM_033427.3

p.L160P

c.479T>C

1 paper

NM_033427.3

p.L156M

c.466C>A

1 paper

NM_033427.3

p.E161A

c.482A>C

1 paper

NM_033427.3

p.K155E

c.463A>G

1 paper

NM_033427.3

p.K154Q

c.460A>C

1 paper

NM_033427.3

p.H153Q

c.459C>G

1 paper

NM_033427.3

p.H153Q

c.459C>A