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.A1179Splc

c.3536-27A>G

Surrounding Variants

1 paper

NM_033427.3

p.A1179Splc

c.3536-32C>T

1 paper

NM_033427.3

p.A1179Splc

c.3536-36A>T

1 paper

NM_033427.3

p.A1179Splc

c.3536-37A>T

1 paper

NM_033427.3

p.A1179Splc

c.3536-47A>G

1 paper

NM_033427.3

p.A1179Splc

c.3536-50A>G

1 paper

NM_033427.3

p.A1179Splc

c.3536-3T>G

1 paper

NM_033427.3

p.L1181L

c.3543G>C

1 paper

NM_033427.3

p.A1179Splc

c.3536-75G>C

1 paper

NM_033427.3

p.I1193I

c.3579C>A

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.E1201*

c.3601G>T